Showing papers by "Montreal Children's Hospital published in 1993"
TL;DR: The overall therapeutic efficiency of the myoblast transfer was poor as judged by the results in maximal voluntary force generation, dystrophin content of the muscle, magnetic resonance imaging of the Muscle, and the lack of donor‐derived DNA and dyStrophin messenger RNA in the injected muscle.
Abstract: One biceps muscle of 8 patients with Duchenne muscular dystrophy was injected at 55 sites with a total of 55 million viable, purified, and contamination-free normal myoblasts (myoblast transfer). The other biceps of each patient was injected with a placebo to serve as a control. The procedure was blinded to the patients, parents, and investigators. Myoblasts derived from a biopsy specimen of the fathers were cultured and purified under strict conditions and carefully screened for microbial contamination. All patients received cyclophosphamide for immunosuppression for 6 or 12 months. No serious complications were observed after myoblast transfer, indicating that the procedure is safe. The overall therapeutic efficiency of myoblast transfer was poor as judged by the results in maximal voluntary force generation, dystrophin content of the muscle, magnetic resonance imaging of the muscle, and the lack of donor-derived DNA and dystrophin messenger RNA in the injected muscle. An improved efficiency of the take of myoblasts might be achieved by using younger cells and injecting the myoblasts with a myonecrotic agent (to increase the prevalence of regeneration) and a basal laminal fenestrating agent.
305 citations
TL;DR: The results imply that the premature infant has the basis for communicating pain via facial actions but that these are not well developed, while the full‐term newborn is better equipped to interact with his caretakers and express his distress through specific facial actions.
Abstract: The purpose of this study was to examine the behavioural responses of infants to pain stimuli across different developmental ages. Eighty infants were included in this cross-sectional design. Four subsamples of 20 infants each included: 1. (1) premature infants between 32 and 34 weeks gestational age undergoing heel-stick procedure; 2. (2) full-term infants receiving intramuscular vitamin K injection; 3. (3) 2-month-old infants receiving subcutaneous injection for immunisation against DPT; 4. (4) 4-month-old infants receiving subcutaneous injection for immunisation against DPT. Audio and video recordings were made for 15 sec from stimulus. Cry analysis was conducted on the first full expiratory cry by FFT with time and frequency measures. Facial action was coded using the Neonatal Facial Action Coding System (NFCS). Results from multivariate analysis showed that premature infants were different from older infants, that full-term newborns were different from others, but that 2- and 4-month-olds were similar. The specific variables contributing to the significance were higher pitched cries and more horizontal mouth stretch in the premature group and more taut tongue in the full-term newborns. The results imply that the premature infant has the basis for communicating pain via facial actions but that these are not well developed. The full-term newborn is better equipped to interact with his caretakers and express his distress through specific facial actions. The cries of the premature infant, however, have more of the characteristics that are arousing to the listener which serve to alert the caregiver of the state of distress from pain.
259 citations
TL;DR: virtually all poor sleepers showed significant improvement following treatment and parents of good sleepers being less accurate in reporting on their children's sleep behavior.
Abstract: This study examines the accuracy of parents' reports about their children's sleep behavior and their response to a behavioral treatment. Twenty-eight sleep-disordered and thirty control children aged 12-36 months were filmed during three nights using an infrared camera and their sleep behavior compared with parental reports. There were significant differences among the groups with parents of good sleepers being less accurate in reporting on their children's sleep behavior. Poor sleepers also had more behavior problems, a more difficult temperament and more adverse early medical histories. The good sleepers woke up as frequently as the poor sleepers. However, they managed to soothe themselves back to sleep without disturbing anyone. Virtually all poor sleepers showed significant improvement following treatment.
180 citations
TL;DR: EMLA may be a useful agent for pain management in neonatal circumcision as evidenced by increased heart rate, transcutaneous oxygen saturation, facial activity, and crying in newborns.
Abstract: Objective. —To determine the efficacy of topical anesthetic cream, eutectic mixture of local anesthetics (EMLA), in alleviating pain from neonatal circumcision. Design. —Randomized, controlled trial. Setting. —Normal newborn nursery in a university teaching hospital. Patients. —Twenty-seven newborn, full-term male neonates, aged 1 to 3 days. Outcome Measures. —Heart rate, transcutaneous oxygen saturation, facial activity, and crying. Results. —Compared with baseline, all newborns experienced pain as evidenced by increased heart rate of an average of 40 beats per minute (F [8, 25]=14.12; P P P P P P Conclusions. —Circumcision procedure produces pain responses that EMLA diminishes. Thus, EMLA may be a useful agent for pain management in neonatal circumcision. ( JAMA . 1993;270:850-853)
153 citations
TL;DR: Results suggest that FEF25–27 is a sensitive index of airway obstruction, and the ratio between the FEV1 and the forced vital capacity (FVC) in 100 asthmatic children aged 6–17 years, 29 of whom were wheezing at the time of the evaluation.
Abstract: The use of spirometry in the assessment of children with asthma is taking on new importance with the realization that considerable airway obstruction may exist in the absence of clinically detectable abnormalities. There has been controversy over the value and relative sensitivity of various spirometry indices. This study evaluated the forced expiratory flow between 25% and 75% of vital capacity (FEF25-75), forced expired volume in 1 second (FEV1), and the ratio between the FEV1 and the forced vital capacity (FVC) in 100 asthmatic children aged 6-17 years, 29 of whom were wheezing at the time of the evaluation. All children with clinical wheezing had a FEV25-75 < 2 standard deviations (SD) below the mean (-2 SD), whereas 8 had a normal FEV1. The majority of the wheezing children had abnormalities of all 3 indices, whether expressed as < or = -2 SD or, in the case of the FEV1/FVC, arbitrarily taken as < 80%. Sixty-seven children of the entire study group had at least 1 abnormal spirometric index, but 38 of these had no clinical abnormalities. Twelve children had a reduced FEF25-75 as the only abnormality. These results suggest that FEF25-75 is a sensitive index of airway obstruction.
122 citations
Journal Article•
TL;DR: This new "Montreal classification" can simplify and improve the stratification of patients with esophageal atresia and reflects the more favorable outcome of low birth weight neonates.
106 citations
TL;DR: A series of eight children with cutis marmorata tefangiectatica congenlta are reported, including one with associated congenital hypothyroidism, a relationship that has never before been noted.
Abstract: Cutis marmorata telangiectatica congenita is an uncommon, generally congenital, cutaneous condition. The major skin findings are persistent, fixed cutis marmorata, telangiectasia, and phlebectasia; often, there is associated skin atrophy and ulceration as well. Significantly, two-thirds of patients have other congenital anomalies, although often minor ones. We report a series of eight children with cutis marmorata telangiectatica congenita, including one with associated congenital hypothyroidism, a relationship that has never before been noted.
86 citations
TL;DR: Premature neonates are capable of expressing their pain in a manner similar to healthy, full-term neonates, and factors that alter this response were not clearly delineated.
Abstract: Objective To describe the physiologic and behavioral responses of premature neonates to a painful stimulus. Design Descriptive Setting Secondary‐level neonatal unit in a large metropolitan university teaching hospital. Participants Forty neonates between 32 and 34 weeks' postconceptual age and less than 5 days' postnatal age. Main Outcome Measures: Physiologic (heart rate, oxygen saturation, and intracranial pressure) and behavioral (facial expression and cry) outcomes observed during a routine heel stick. Results Physiologic responses were significant, but were not specific to pain. Behavioral responses were more promising and indicated that premature neonates were capable of responding in a manner similar to full‐term neonates. Conclusions Premature neonates are capable of expressing their pain in a manner similar to healthy, full‐term neonates. Factors that alter this response were not clearly delineated. Further research is needed to determine more precise patterns of response in this age group.
83 citations
TL;DR: It is concluded that immunoblotting is a useful method for the detection of anti-pituitary autoantibodies.
70 citations
Journal Article•
TL;DR: A significant rate of complications in the infant age group is found, but this study differs from other studies in finding that very premature neonates do not experience a higher rates of complications.
Abstract: Tracheotomy in infants is considered to be associated with a high complication rate. This study was conducted to establish the indications and complications associated with tracheotomy in patients less than one year old. The charts of 44 consecutive infants operated on between 1982 and 1991 at the Montreal Children's Hospital were reviewed. The intra-operative complication rate was 9%; the postoperative was 18%. Home care was associated with a very low morbidity. The mortality attributable to tracheotomy was 5%. Significant complications were associated with the lack of availability of the correct size tracheotomy cannula. This study finds a significant rate of complications in the infant age group, but differs from other studies in finding that very premature neonates do not experience a higher rate of complications.
61 citations
TL;DR: Both transcutaneous CO2 and end-tidal CO2, as well as PETCO2, should be measured during pediatric polysomnography, with a 70% reduction in the number of epochs that could not be assessed for hypoventilation.
Abstract: Pediatric obstructive sleep apnea (OSAS) is characterized by partial airway obstruction, alveolar hypoventilation, and elevated arterial CO2 (PaCO2). Thus, a reliable, practical method of estimating CO2 is needed for pediatric polysomnography. Therefore, we measured both transcutaneous CO2 (PtcCO2) and end-tidal CO2 (PETCO2) in 15 pediatric polysomnographic evaluations. Sleep state, the highest PtcCO2, and the highest PETCO2 were recorded for 5,159 thirty-second epochs. Although PtcCO2 and PETCO2 were available for 78.5 and 73.0% of epochs, respectively, at least one estimator was available for 92% of the epochs. One infant who would not tolerate a nasal sampling catheter had no PETCO2 data. For 13 of 14 studies there was a relatively constant difference between PtcCO2 and PETCO2. The difference between PtcCO2 and PETCO2 was within 4 mm Hg in 63.9% of 3,072 epochs. Across 14 studies, mean PtcCO2 exceeded mean PETCO2 by 2.8 +/- 3.0 mm Hg, and it was within 4 mm Hg in 10 studies. In three subjects, PETCO2 was intermittently or consistently less than PtcCO2 because of tachypnea, increased physiologic dead space, or severe partial airway obstruction; in one subject PtcCO2 exceeded PETCO2 for undetermined reasons during one electrode application. The results of this study indicate that PtcCO2, as well as PETCO2, should be measured during pediatric polysomnography. By utilizing both PtcCO2 and PETCO2 there was a 70% reduction in the number of epochs that could not be assessed for hypoventilation. For an individual subject or electrode application there was a constant, and usually close, relationship, between PtcCO2 and PETCO2.(ABSTRACT TRUNCATED AT 250 WORDS)
TL;DR: This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition.
Abstract: We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported. © 1993 Wiley-Liss, Inc.
Journal Article•
TL;DR: The authors' data confirm that there is good parent-child agreement on the level of dysfunction of children > or = 9 years of age with JRA and spondyloarthritis and this level of agreement extends over a wide range of general symptoms and includes physical and psychosocial function.
Abstract: Objective To determine the level of agreement between parents and children in rating dysfunction in juvenile rheumatoid arthritis (JRA) and juvenile spondyloarthritides. Methods We conducted separate interviews (parents and patients) of children > or = 9 years of age with JRA and spondyloarthritis attending our clinic. A questionnaire consisting of 100 probes (57 physical activities, 26 psychosocial issues and 17 general symptoms) was used. Probes were scored by respondents on a 6-point scale for their frequency of occurrence (all probes) and importance to the patient (physical activities, only), giving a total of 157 scores. Forty patients were included. Level of agreement between patients and parents was determined by weighted kappa (kappa). Results Mean kappa for all scores was 0.60; gross motor 0.51, fine motor 0.64, psychosocial 0.56 and general symptoms 0.64. One hundred and forty scores (89%) showed at least moderate agreement. Conclusions Our data confirm that there is good parent-child agreement on the level of dysfunction of children > or = 9 years of age with JRA and spondyloarthritis. This level of agreement extends over a wide range of general symptoms and includes physical and psychosocial function. Thus both the parent and the child are reliable informants on the impact of chronic arthritis on the quality of life of affected children and either can be used for this type of assessment.
TL;DR: An approach to monitoring children with cystinuria who come to medical attention before formation of cystine stones is outlined, suggesting that types I and III cyst inuria mutations might involve two distinct genetic loci.
TL;DR: This multicenter collaborative study was undertaken to review the types and complications of femoral neck fractures in children, and found that these fractures are rare, but are serious injuries since their complications may lead to a life-long disability.
Abstract: This multicenter collaborative study was undertaken to review the types and complications of femoral neck fractures in children. It is a retrospective clinical and radiological review of 108 femoral neck fractures. Cases originated from four different pediatric hospitals. All the patients had plain radiographs. Fractures occurred at all ages (one day to 18 years), and 63% of the patients were boys. Forty-nine fractures were traumatic; 37 were pathologic, 19 were insufficiency fractures; and three were fatigue fractures. Unless the underlying bone was abnormal, significant high velocity trauma, fall from a height or other severe violence was required to fracture the femoral neck. A unicameral bone cyst was the underlying lesion in 40% of pathologic femoral neck fractures and malignancy in 35%. Osteoporosis as in myelodysplasia, osteogenesis imperfecta and from other causes was responsible for 52% of insufficiency fractures. Because of the unique osseous and vascular anatomy of the femoral head and neck in the growing child, these fractures have a high incidence of complications. Complications included avascular necrosis 13%, premature closure of the epiphyseal plate 12%, varus deformity 8.3%, and nonunion 3.7%. Unless there is a clear history of significant violence, a cause for a femoral neck fracture should be sought, e.g. an underlying bone lesion or a metabolic bone disease. These fractures are rare, but are serious injuries since their complications may lead to a life-long disability.
TL;DR: The skin disease in patients did not respond to topical glycine/proline ointment or to oral vitamin C, and prolidase activity was either normal or half-normal in all family members.
Abstract: Prolidase deficiency is a rare hereditary disorder with a wide spectrum of clinical manifestations including skin ulcers, eczematous eruptions, characteristic facies, mental retardation, splenomegaly, and susceptibility to infections. We report two new cases of prolidase deficiency. Our patients had the typical manifestations of prolidase deficiency. One also had lupus erythematosus. Prolidase activity was either normal or half-normal in all family members. The skin disease in our patients did not respond to topical glycine/proline ointment or to oral vitamin C.
TL;DR: EDRF and ATP-dependent K+ channels appear to play a role in the control of the newborn piglet pulmonary vasculature in isolated perfused lungs from 1- and 7-day-old piglets.
Abstract: It is accepted knowledge that the endothelium can profoundly affect vascular tone through the release of vasoactive substances. The maturational changes in the role of the endothelium-derived relax...
TL;DR: Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency and confirm phenotypic pleomorphism without a consistent pattern of neurological injury and suggest some broad correlation between mutase class and phenotype.
Abstract: MethylmalonylCoA mutase (MCM) is a mito-chondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into mut° and mut− classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency. All 11 mut° patients had an early neonatal presentation; 6 of these patients died in infancy and 3 of 5 survivors had a poor neurological outcome as evidenced by severe delay or spastic quadriparesis with dystonia. The 2 other survivors include a 27-month-old child with a mild delay in verbal and fine motor skills and an adolescent with low normal intelligence. Of the 9 mut− patients, 7 became symptomatic in late infancy or childhood and 2 were picked up on screening. Two of the 9 patients have never had an episode of metabolic decompensation yet both are neurologically compromised; one severely retarded and autistic, the other mildly delayed. Four mut− patients have had episodic acidosis and are neurologically moderately affected, while 3 have had episodic acidosis and are neurologically intact. These results confirm phenotypic pleomorphism without a consistent pattern of neurological injury and suggest some broad correlation between mutase class and phenotype. Survival with good outcome is possible among mut° patients as is significant morbidity among mut− patients. Acidosis and metabolic imbalance are not necessary preconditions for significant morbidity. © 1993 Wiley-Liss, Inc.
TL;DR: Findings in phase II of a pilot study of cystic fibrosis carrier screening/testing by mutation analysis are reported, finding that the majority of students understood that a negative DNA test had not excluded them from possible carrier status.
Abstract: We report findings in phase II of a pilot study of cystic fibrosis (CF) carrier screening/testing by mutation analysis. Phase I has been reported elsewhere. Eligible participants in phase II (n = 815) were students (15 to 17 years of age) in public high schools. An educational component (exchange of information and discussion about common genetic disorders including CF) preceded, by one week or more, voluntary participation in the screening component which required a blood sample. The uptake rate for screening was 42%. Nine carriers (2pq = 0.0260) were identified, all with the delta F508 mutation; students were also tested for G551D, G542X, W1282X, and -549-mutations, but no carriers of these alleles were found. Carriers had positive views of the education and testing experiences. Persons identified as 'non-carriers' were also surveyed (n = 135, response rate 41%). As in phase I, the majority (83%) again understood that a negative DNA test had not excluded them from possible carrier status. Students who participated in the informational component but were not screened served here as controls in the follow up survey (n = 208, response rate 53%). Their views were similar to those of the screened non-carriers, and similar also to those held by students, adults, pregnant women, couples, and CF relatives in other communities.
TL;DR: Another extensive pedigree is reported after having had the opportunity to investigate one member of the family in detail, ranging from mild to incapacitating.
Abstract: Familial cold urticaria (FCU) is a rare autosomal dominant condition, first described in 1940. The onset is in early life in all reported cases. Symptoms are triggered by generalized exposure to cold air, particularly in damp and windy weather. The cutaneous lesions consist of erythematous macules or plaques, urticarial lesions and sometimes petechiae. Associated fever, chills, joint pains, nausea, stiffness and swelling of the hands and feet frequently occur. The symptoms are variable, ranging from mild to incapacitating. The pathogenesis of FCU remains unknown. To our knowledge only 10 pedigrees have been published, seven from the USA and one each from Holland, France and South Africa. We wish to report another extensive pedigree after having had the opportunity to investigate one member of the family in detail. A short form of this pedigree has been published elsewhere.
TL;DR: This paper retrospectively analyses the clinical data of 65 consecutive cases of hemifacial spasm, finding that a benign etiology was clinically evident in the majority of cases and this effect did not diminish with repeated injections.
Abstract: This paper retrospectively analyses the clinical data of 65 consecutive cases of hemifacial spasm. A benign etiology was clinically evident in the majority of cases. Neuroradiologic investigation rule
TL;DR: It is concluded that pulse oximetry gives variable results in patients with sickle cell disease and should be used with caution to predict arterial saturation in this patient group.
Abstract: Patients with sickle cell disease usually have mild hypoxaemia and their oxyhaemoglobin dissociation curve is shifted to the right. It follows that oxygen saturation in sickle cell disease should be lower than normal. Most subjects in this clinic had normal oxygen saturation by pulse oximetry, however. To improve the understanding of this paradox, arterialised capillary oxygen tension (PO2) and oxygen saturation were compared with simultaneously measured pulse oximeter saturation in 20 children with sickle cell disease. In addition, the PO2 at 50% haemoglobin saturation (P50) was compared with saturation measured by pulse oximetry in all 20 patients. It was found that saturation measured by pulse oximetry was, on the whole, similar to that calculated from the sampled blood. Individual deviations were not random, however, and were partly explained by differences in P50 values. It is concluded that pulse oximetry gives variable results in patients with sickle cell disease and should be used with caution to predict arterial saturation in this patient group.
TL;DR: Two psychosocial treatments used for ADHD, parent training and social skills training are reviewed and ways that these two components may be combined for greater effectiveness are suggested by encouraging the parent to learn more about the importance of developing social competence and positive peer status.
Abstract: Attention-deficit hyperactive disorder (ADHD) is a chronic and treatment-refractory syndrome affecting academic, social and emotional adjustment in children. Stimulant medication is the treatment of choice and is often paired with psychosocial treatment. However, no single treatment modality alleviates the symptoms or improves the negative peer status of these children in their social ecology over the long term. This article reviews two psychosocial treatments used for ADHD, parent training and social skills training and suggests ways that these two components may be combined for greater effectiveness by encouraging the parent to: 1. learn more about the importance of developing social competence and positive peer status; 2. use incidental teaching and self-evaluation strategies; 3. become strategic organizers of the child's social life; and 4. become case managers to facilitate more consistency between the significant adults in the child's social environment.
TL;DR: It is suggested that loss of elastic lung recoil pressure is a factor in airflow limitation of children and young adults with CF or asthma.
Abstract: A reduction of lung recoil pressure could aggravate any airflow limitation that might be present in patients with cystic fibrosis (CF) or asthma. In a group of 22 children and young adults (8 with cystic fibrosis, 8 with asymptomatic asthma, and 6 healthy controls) aged 8-24 years, lung recoil pressure (Pst) at 100%, 90%, and 60% of TLC and static lung compliance (Cst) were measured using an esophageal balloon. The indices of airflow limitation, including maximal expiratory flow at 25% VC (Vmax25), forced expiratory volume in 1 second (FEV1), and specific airway conductance (sGaw), were also measured. In all patients, Vmax25 was reduced, the airway obstruction being more pronounced in patients with CF. Pst was reduced in CF and asthma, again more in the patients with CF. Cst was normal in both groups because the pressure volume curve was shifted up and to the left. There were significant correlations between Pst at 60%, 90%, and 100% of TLC and both Vmax25 and FEV1 (P < 0.01). sGaw correlated with Pst90 and Pst60 (r = 0.47 and 0.53, respectively; P < 0.05 for both). No correlation was found between Cst and Pst at any lung volume. No correlations were observed between Cst and Vmax25, FEV1, or sGaw. These results suggest that loss of elastic lung recoil pressure is a factor in airflow limitation of children and young adults with CF or asthma.
TL;DR: The risk of nosocomial infection in this population of pediatric surgical patients was comparable to that reported in adult surgical patients, and baseline data may aid the development of strategies to lower infection risk in children.
TL;DR: The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
Abstract: Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally law calculared cytosolic phosphorylation potential. Tow of the 4 patients had abnormally law resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphare conecntration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
TL;DR: Clinical, radiographic, and computed tomographic findings in eight children with a histologically proven diagnosis of epiphyseal or apophyseal osteomyelitis were reviewed, finding CT yielded important new diagnostic information in seven of the eight patients, failing to do so in only one.
Abstract: We reviewed the clinical, radiographic, and computed tomographic (CT) findings in eight children with a histologically proven diagnosis of epiphyseal or apophyseal osteomyelitis. In all cases the femur was involved: in five the osteomyelitis was localized in the femoral condyle, in two it was in the greater trochanter, and in one it was in the femoral head epiphysis. In four of the six cases of epiphyseal involvement there was associated joint effusion or septic arthritis. CT examination may demonstrate a serpentine tract, a sequestrum, cortical destruction or adjacent soft tissue swelling and can differentiate osteomyelitis from other epiphyseal lucent lesions, particularly chondroblastoma and osteoid osteoma. CT yielded important new diagnostic information in seven of the eight patients, failing to do so in only one. In one case, CT showed a wooden splinter in an abscess cavity, which had been mistaken for a sequestrum. When combined with accurate clinical and laboratory information and good quality plain radiographs, CT can lead to an early diagnosis of epiphyseal infection. Early diagnosis helps avoid delays in initiating antibiotic or surgical treatment caused by the unusual (epiphyseal or apophyseal) location of the bone abscess.
TL;DR: What holds true for crying and colic may also hold for bedwetting and enuresis, overactivity and attention-deficit hyperactivity disorder, and abdominal pain and recurrent abdominal pain syndrome, to name just a few.
Abstract: To summarize, it has been argued that: 1. The assessment of complaints about crying and colic present particular diagnostic problems. 2. The crying brought as a complaint seldom indicates disease. 3. Once clinical disease has been ruled out, the clinical meanings of normality and abnormality no longer apply. 4. At that point, one should not try to determine a "cut-off" point for abnormal crying, because (a) it is unhelpful clinically, (b) it is wrong in principle, and (c) it is not likely that any specific amount of crying is normal or abnormal, independent of context. 5. As a possible alternative, it is proposed that we should think of the behavior not a symptom of something the infant "has," but as something the infant "does." This behavior may have consequences that are functional or dysfunctional for the infant, the caregiver, or the infant-caregiver interaction. If this argument has merit, it may have some interesting and important implications for the way we think about, treat, and investigate developmental and behavioral problems including (but not limited to) infant crying and colic. First, what holds true for crying and colic may also hold for bedwetting and enuresis, overactivity and attention-deficit hyperactivity disorder, and abdominal pain and recurrent abdominal pain syndrome, to name just a few. As a brief test of their applicability, one might ask how often organic disease is found in these entities, or how often patients are investigated and treated because an arbitrary amount of these behaviors is taken to be "excessive" or abnormal.(ABSTRACT TRUNCATED AT 250 WORDS)
TL;DR: It appears that infection with parainfluenza type 4 virus may be more common than previously recognized, and it may be associated with more severe infections.
Abstract: Parainfluenza viruses are a major cause of hospitalization for respiratory illness in children. The spectrum of clinical illness associated with infection due to parainfluenza type 4 virus has not been well defined. It is technically difficult to isolate the virus in tissue culture, and because illness is generally reported to be mild, in many cases, patients may not seek medical attention. We describe a series of 10 children with parainfluenza type 4 virus infection who were seen at the Montreal Children's Hospital between 1988 and 1992. There were five males and five females whose average age was 29.7 months. Infection was associated with symptoms of bronchiolitis or pneumonia in 5 children, paroxysmal coughing in 3 infants, apnea in 1 newborn, and aseptic meningitis in 1 child. Hospitalization was required for 8 of the 10 children. It appears that infection with parainfluenza type 4 virus may be more common than previously recognized, and it may be associated with more severe infections.
TL;DR: It is proposed that I65T:H-9:VNTR-8 and R408W:H/VN TR-8 chromosomes are markers for a diaspora of ‘Celtic’ descendants in contemporary Europeans.
Abstract: We analyzed mutations, RFLP haplotypes (H), and a VNTR polymorphism at the phenylalanine hydroxylase locus (PAH) in 12 French-Canadian patients with phenylketonuria (PKU) from the eastern region of Quebec province and 13 non-French-Canadian PKU patients from the Montreal region. There were 10 different mutation/H/VNTR haplotype combinations on the 50 PKU chromosomes: one set of 5 and another of 8 accounted for 88 and 77% of these chromosomes in the French-Canadian and non-French-Canadian patients, respectively. The differences in PKU haplotypes between the two groups of probands reflect the different histories of the two populations. Three PKU haplotype combinations were shared by the two groups: IVS12nt1:H-3:VNTR-8, I65T:H-9:VNTR-8, and R408W:H-1:VNTR-8. The IVS12nt1 mutation (18% of the total sample) is prevalent in northern Europeans. The I65T-H-9 and R408W:H-1 haplotypes have seldom been reported in Europeans but when encountered tend to be found in northwestern regions. The R408W mutation is usually on H-2 in Europeans. In Quebec the R408W:H-1 and I65T:H-9 haplotypes accounted for 20% of PKU chromosomes, clustered in two geographic regions, and in every family where they occurred an Irish or Scottish ('Celtic') ancestor could be inferred. We propose that I65T:H-9:VNTR-8 and R408W:H-1:VNTR-8 chromosomes are markers for a diaspora of 'Celtic' descendants. Our findings predict the distributions of these unusual PKU haplotypes in contemporary Europeans.