Jahra Hospital

About: Jahra Hospital is a healthcare organization based out in Al Jahra, Kuwait. It is known for research contribution in the topics: Population & Exome sequencing. The organization has 223 authors who have published 222 publications receiving 4068 citations. The organization is also known as: Al-Jahra Hospital.

Unique Endemicity of Cryptosporidiosis in Children in Kuwait

Abstract: To understand the transmission of Cryptosporidium infection in children, fecal specimens from 62 Kuwaiti children with gastrointestinal symptoms found to be positive by microscopy were genotyped and subtyped with a small subunit rRNA-based PCR-restriction fragment length polymorphism analysis and a 60-kDa glycoprotein-based DNA sequencing tool. The median age of infected children was 4.5 years, and 77% of infections occurred during the cool season of November to April. Fifty-eight of the children (94%) had Cryptosporidium parvum, three (5%) had Cryptosporidium hominis, and one (1%) had both C. parvum and C. hominis. Altogether, 13 subtypes of C. parvum (belonging to four subtype allele families) and C. hominis (belonging to three subtype allele families) were observed, with 92% of specimens belonging to the common allele family IIa and the unusual allele family IId. Thus, the transmission of cryptosporidiosis in Kuwaiti children differed significantly from other tropical countries.

Human Brucellosis in Kuwait: A Prospective Study of 400 Cases

Abstract: SUMMARY The clinical pattern of 400 cases of brucellosis in Kuwait is presented. The disease was acute in 77 per cent, sub-acute in 12. 5 per cent and chronic in 10. 5 per cent of cases. Raw milk was the major source of infection. The major features on presentation, irrespective of the course of the disease, were fever, sweating, headache, rigors, arthralgia, myalgia, and low back pain. Hepato-splenomegaly was present in 41 per cent of cases and in 32 per cent neither liver nor spleen were palpable. The haematologic findings were not specific and hepatic dysfunction (shown by liver enzyme abnormalities) was common. Skeletal (26 per cent) and genital (8. 5 per cent) changes and neurobrucellosis (7 per cent) were the major complications. The ELISA was the most sensitive and reliable diagnostic test especially in relation to chronic brucellosis and neurobrucellosis. ELISA allowed the determination of brucella-specific immunoglobulins (Ig)G, IgM and IgA in the CSF, and provided profiles of Ig, in sera, which were different in patients with chronic (elevated IgG and IgA) from those with acute (elevated IgM alone or IgG, IgM and IgA) brucellosis. Treatment with tetracycline, doxycycline or rifampicin gave a cure rate of over 91 per cent in acute and subacute brucellosis. Co-trimoxazole was associated with a relapse rate of 50 per cent. Two drug combinations of streptomycin and tetracycline, streptomycin and rifampicin or streptomycin and doxycycline were effective, but one of five patients with chronic brucellosis relapsed. A combination of streptomycin, tetracycline and rifampicin with or without steroids was used successfully in neurobrucellosis, septicaemic shock and subacute bacterial endocarditis.

Clinical categories of neurobrucellosis. A report on 19 cases.

Abstract: Brucellosis rarely can present with involvement restricted to the nervous system We describe a total of 19 cases of neurobrucellosis in whom the clinical presentation lay in three distinct categories The first was an acute presentation with meningoencephalitis The disease also presented in a chronic form where the brunt of the illness can either be in the peripheral or the central nervous system (CNS) The chronic peripheral form is that of a proximal polyradiculoneuropathy The central form is that of diffuse CNS involvement, predominantly with myelitis or cerebellar involvement with or without cranial nerve palsies Although the two chronic forms, 'peripheral' and 'central', are distinct, some overlap is possible This was not observed for the acute form The pathology of the three presentations may be different, being a direct effect of infection in the acute form, and an immune-related process, possibly demyelinating in nature, in the chronic forms The response to treatment in the acute and chronic forms is also different, being much better in the acute form Awareness of the condition and performance of the appropriate serological tests will differentiate neurobrucellosis from other chronic CNS infections, especially tuberculosis and neurosyphilis

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Abstract: In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.

The effect of anaesthesia and surgery on plasma cytokine production.

Abstract: The aim of this study was to investigate cytokine production in response to anaesthesia [total intravenous anaesthesia (TIVA) with propofol, sufentanil and atracurium] and surgery (laparoscopic vs. open cholecystectomy). Forty adult patients, ASA I–II, undergoing elective laparoscopic (group 1) or open (group 2) cholecystectomy were studied. Venous blood samples for measurement of interleukin (IL)-1β, IL-2, IL-4, IL-6, tumour necrosis factor-α (TNF-α) and interferon-γ (IFN-γ) were taken before the induction of anaesthesia, pre-incisionaly, at the end of anaesthesia and surgery and 24-h postoperatively. Pre-incisionaly, in both groups, IL-1β, IL-4, IL-6, TNF-α and IFN-γ did not show a significant change, whereas IL-2 showed a significant decrease (p < 0.005 in group 1 and p < 0.001 in group 2) compared with pre-induction levels. By the end of anaesthesia and surgery, IL-1β, IL-2, IL-4, IL-6 and TNF-α showed a significant increase in group 2 (p < 0.005 for IL-1β, IL-2 and IL-4, and p < 0.05 for IL-6 and TNF-α); while in group 1, only IL-2 showed a significant increase (p < 0.01) and IFN-γ showed a significant decrease (p < 0.05) compared with pre-incisional levels. By 24-h postoperatively, IL-1β, IL-4, IL-6 and TNF-α had decreased significantly in group 2 (p < 0.005 for IL-4 and p < 0.05 for the others); whereas in group 1, IL-2 and IFN-γ showed a significant increase (p < 0.005) compared with the end of anaesthesia and surgery level. In conclusion, TIVA with propofol, sufentanil and atracurium does not seem to have a significant effect on IL-1β, IL-4, IL-6, TNF-α and IFN-γ release. IL-2 was the only cytokine to show a significant decrease due to the effect of anaesthesia alone in both groups. The cytokine response to open cholecystectomy stimulated both the pro-inflammatory (IL-1β, IL-6 and TNF-α) and the anti-inflammatory (IL-4) components, while this response was absent in laparoscopic cholecystectomy.