Background Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. Methods We reviewed the clinical and family histories of and medical and surgical complications in 220 index patients with biochemically confirmed Ehlers–Danlos syndrome type IV and 199 of their affected relatives. We identified the underlying COL3A1 mutation in 135 index patients. Results Complications were rare in childhood; 25 percent of the index patients had a first complication by the age of 20 years, and more than 80 percent had had at least one complication by the age of 40. The calculated median survival of the entire cohort was 48 years. Most deaths resulted from arterial rupture. Bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely l...

Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type

Background The management of granulomatous mastitis depends on the causative factor, and accurate diagnosis in distinguishing between idiopathic granulomatous mastitis (IGM) and tuberculous mastitis (TBM) is indispensable. This is particularly problematic in the cases of granulomatous mastitis in which the microbiological studies are negative. In this study, in a large cohort, the histological features for IGM and TBM were compared. Methods The histopathology files from the two participating hospitals were searched for cases of granulomatous inflammation of the breast over an 8-year period. The parameters assessed included age of patient, lesional size, systemic and local symptoms, and histological findings of inflammatory cells, granulomas, necrosis, multinucleated giant cells, fibrosis and calcifications. Results 29 cases of IGM and 33 cases of TBM were included in this study. A significant difference was seen between the two groups with regard to patient age (t=2.52, p s =0.39, p s =−0.38, p Conclusion TBM was more likely to occur in younger patients, with a larger clinical mass at presentation. Histologically, TBM tends to show more eosinophils and necrosis, and IGM is associated with more plasma cells. The characteristics of the granulomas and giant cells were not distinguishing features.

https://jcp.bmj.com/content/jclinpath/64/5/405.full.pdf

Granulomatous mastitis: the histological differentials.

Background: Hydatid disease (HD) is an ancient disease and even was known to Hippocrates. This disease involves all human parts and most common affected organs are liver and lungs. Incidence of unusual site is about 8-10%. The clinical picture depends upon the involved organs, its effects on adjacent structures, complications due to secondary infection, rupture, and anaphylaxis caused by hydatid cysts. Aim: The aim of this study was to find out incidence of unusual location of hydatid cyst in the human body. Materials and Methods: A retrospective study of HD was carried in a medical college between July 2007 and June 2012. A total 79 cases of HD were treated during this period. Information on clinical presentation and management were reviewed, and results presented as summary statistics. Results: Sixty one cases were of liver HD, and 11 were with hydatid lung disease. Fifty cases were with right lobe involvement, and rest 11 were with both lobe involvement. Out of 11 lung hydatid only one case was with bilateral lung involvement. Only eight cases of HD of uncommon locations and presentations were encountered during this period. First case presented with left hypochondriac mass as splenic HD, second with pelvic HD along with obstructive uropathy, third with non-functioning right kidney with bilateral psoas muscles HD, fourth with HD involving mesentery, fifth with pelvic pain due to right ovary HD, sixth with simultaneous involvement of the liver and right subdiaphragmatic region, seventh with HD of right inguinal region, and eighth with hydatid cyst of the left kidney. Even though, there was no mortality found in these patients, there was high morbidity. Conclusion: We conclude that Echinococcus granulosus can affect any organ in the body from head to toe, and a high suspicion of this disease is justified in endemic regions. Moreover, medical treatment should be given in the pre-operative period as well as in the post-operative period for 4-6 weeks.

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Uncommon locations and presentations of hydatid cyst

A genetic influence on spontaneous pneumothoraces-those occurring without a traumatic or iatrogenic cause-is supported by several lines of evidence: 1) pneumothorax can cluster in families (i.e., familial spontaneous pneumothorax), 2) mutations in the FLCN gene have been found in both familial and sporadic cases, and 3) pneumothorax is a known complication of several genetic syndromes. Herein, we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others. At times, pneumothorax is their herald manifestation. These syndromes have serious potential extrapulmonary complications (e.g., malignant renal tumors in Birt-Hogg-Dube syndrome), and surveillance and/or treatment is available for most disorders; thus, establishing a diagnosis is critical. To facilitate this, we provide an algorithm to guide the clinician in discerning which cases of spontaneous pneumothorax may have a genetic or familial contribution, which cases warrant genetic testing, and which cases should prompt an evaluation by a geneticist.

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The Genetics of Pneumothorax.

The management of rectal cancer has evolved significantly in the last few decades. Significant improvements in local disease control were achieved in the 1990s, with the introduction of total mesorectal excision and neoadjuvant radiotherapy. Level 1 evidence has shown that, with neoadjuvant chemoradiation therapy (CRT) the rates of local recurrence can be lower than 6% and, as a result, neoadjuvant CRT currently represents the accepted standard of care. This approach has led to reliable tumor down-staging, with 15-27% patients with a pathological complete response (pCR)-defined as no residual cancer found on histological examination of the specimen. Patients who achieve pCR after CRT have better long-term outcomes, less risk of developing local or distal recurrence and improved survival. For all these reasons, sphincter-preserving procedures or organ-preserving options have been suggested, such as local excision of residual tumor or the omission of surgery altogether. Although local recurrence rate has been stable at 5-6% with this multidisciplinary management method, distal recurrence rates for locally-advanced rectal cancers remain in excess of 25% and represent the main cause of death in these patients. For this reason, more recent trials have been looking at the administration of full-dose systemic chemotherapy in the neoadjuvant setting (in order to offer early treatment of disseminated micrometastases, thus improving control of systemic disease) and selective use of radiotherapy only in non-responders or for low rectal tumors smaller than 5 cm.

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Neoadjuvant chemoradiation therapy and pathological complete response in rectal cancer

Introduction: The hydatid disease most often involves the liver and the lungs. The disease can involve any part of the body except the hair, teeth and nails. Primary extrahepaticopulmonary hydatid cysts are rare and only a few sporadic cases have been reported. Materials and Methods: Two hundred and forty-four patients with hydatid cysts managed surgically from January 2005 to December 2009 were evaluated retrospectively. Fourteen (5.7%) patients had isolated involvement of the atypical sites, while six (2.4%) also had a primary involvement of liver. Results: The cysts were present in gall bladder (0.4%), peritoneum (1.6%), spleen (1.6%), ovary (0.4%), subcutaneous (0.8%), seminal vesicle (0.4%), spinal (0.4%), pancreas (0.4%), kidney (0.4%), mediastinal (0.4%), muscle (0.4%), and brain (0.8%). Discussion and Conclusions: Involvement of sites other than liver and lungs by hydatid disease is rare. Symptoms are related to size, location or possible complication of the cyst. It should be strongly suspected in differential diagnosis of all abdominal cysts especially in an endemic area. Proper surgical and medical management to avoid any recurrences, and a regular follow-up, are of utmost importance to detect any late complications such as local recurrence of the disease and development of hydatidosis at the primary sites. Keywords: Atypical locations, hydatid, echinococcosis Nigerian Journal of Surgery , Jan-Jun 2012 | Volume 18 | Issue 1

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Atypical localizations of hydatid disease: experience from a single institute.

BACKGROUND Pellet gunfire injuries inflicted while controlling agitated mobs has been studied. METHODS A total of 198 patients admitted to the Accident and Emergency Department with pellet gun injuries were studied in terms of anatomic site, severity and type of injury, treatment, and outcomes. RESULTS 72.7% of patients were aged 16-25 years. The most common sites of injury were the extremities (47.9%), abdomen (36.3%) and chest (31.3%). 59.5% of patients were found to have minor injuries. Of the 80 patients admitted to the hospital for their injuries, 43 (53.7%) required an operative procedure. Six deaths (3.03%) were observed. CONCLUSION While the pellet wound itself may seem trivial, if not appreciated for the potential for tissue disruption and injuries to the head, chest, and abdomen, there can be catastrophic results. Patients should be evaluated and managed in the same way as those sustaining bullet injuries. Language: en

Pellet gunfire injuries among agitated mobs in Kashmir.

Teratomas are tumors composed of tissues derived from more than one germ cell line. Pulmonary teratomas are rare and commonly involve the upper lobe of the left lung. Criteria for pulmonary origin are the exclusion of a gonadal or other extragonadal primary site and origin entirely within the lung. We report a case of a giant pulmonary teratoma in a 2-year-old male child and review the relevant literature.

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Giant Intrapulmonary Teratoma: A Rare Case

Aim: Evaluation of bilateral ureteroscopic retrieval of stones as a single-stage procedure in terms of clearance of the stones, complications of the procedure and duration of hospital stay. A successful outcome was considered when both ureters were free of stones without any major complications. Materials and Methods: A total of 60 patients with bilateral ureteric stones were treated ureteroscopically from March 2006 to September 2009 in the department of Surgery (Urology unit). Majority of the patients were in their third and fourth decade of life with 38 males and 22 females. A single session bilateral ureteroscopic retrieval of stones was done using a 7.8 Fr semirigid ureteroscope. A 0.038-inch guide wire was used and advanced under direct vision, and monitored by C-arm X-ray image intensifier. Balloon dilatation of the intramural ureters was required in 82 renal units. The stones were either extracted directly or disintegrated into small pieces by lithotripsy (pneumatic) before extraction. Ureteric stenting was required in 39 patients. Patients were followed for a period of 3-12 months. Results: A total of 60 patients (120 renal units) with bilateral ureteric stones were treated ureteroscopically. The stone size in the treated patients was in the range 6-20 mm. The stones were radio-opaque in 47 patients and radiolucent in 13 patients. Single stone was present in all except two patients. Operative time ranged between 40 and 120 minutes. Stones were completely removed in 51 (85%) patients following single-session procedure of which 39 (76.4%) were stonefree intraoperatively and another 12 (23.5%) were cleared of the stones in 4 weeks follow-up. Six patients were stonefree unilaterally. Failed procedures were managed with repeated ureteroscopy, DJ stenting and ESWL or open ureterolithotomy. Intraoperatively false passage or minor ureteric perforations were seen in six patients. Postoperative complications included abdominal pain in 10, persistent fever in 4 and hematuria in 2 patients. No long-term complications were observed. Most of the patients were discharged in 2 days. Conclusion: Bilateral same-session ureteroscopy is a safe and effective procedure in the management of bilateral ureteral stones. The results are comparable to unilateral or staged bilateral procedures.

Outcome of bilateral ureteroscopic retrieval of stones in a single session.

Spontaneous hemo-pneumothorax is one of the pulmonary complications of connective tissue disorders such as Ehlers-Danlos syndrome (EDS). Most thoracic surgeons overlook this fact and they consider it as primary. In the following report, we describe a unique case of spontaneous recurrent hemo-pneumothorax in a young patient with undiagnosed EDS. The aim of this presentation is to raise a high index of suspicion of every thoracic surgeon to include in his differential diagnosis, the connective tissue disorders in any case of spontaneous hemo-pneumothorax.

Majid Mushtaque

Papers

Atypical localizations of hydatid disease: experience from a single institute.

Pellet gunfire injuries among agitated mobs in Kashmir.

Giant Intrapulmonary Teratoma: A Rare Case

Outcome of bilateral ureteroscopic retrieval of stones in a single session.

Spontaneous hemo-pneumothorax in a patient with Ehlers–Danlos syndrome