Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA‐SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.     

Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature

We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter's syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter's syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter's syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.     

Glycaemic index of three Indian rice varieties

Three commonly consumed Indian rice varieties (Sona Masuri, Ponni and Surti Kolam) were tested for their glycaemic index (GI). Healthy volunteers were recruited and after an overnight fast were given a 50 g available carbohydrate portion of glucose (reference food) or different varieties of cooked rice (test foods) on separate occasions. The fasting as well as postprandial capillary blood glucose response was determined over 2 h, and the incremental area under the curve (IAUC) was calculated. The GI was calculated as the IAUC of the test food/IAUC of the reference food (glucose) × 100. The differences between the GI values for Sona Masuri (72.0 ± 4.5), Ponni (70.2 ± 3.6) and Surti Kolam (77.0 ± 4.0) rice varieties were non-significant (p = 0.606) and are all classified as high GI varieties of rice. There is an urgent need to study the GI of other commonly consumed rice varieties and to develop rice of a lower GI value.     

Adapted ERAS Pathway vs. Standard Care in Patients with Perforated Duodenal Ulcer—a Randomized Controlled Trial

Objectives

The objective of this study was to evaluate the feasibility and efficacy of ERAS pathways in patients undergoing emergency simple closure of perforated duodenal ulcer (PDU).

Methods

This single-center, prospective, open-labeled, superiority, RCT was carried out from August 2014 to July 2016. Patients of PDU undergoing open simple closure were randomized preoperatively in 1:1 ratio into standard care and adapted ERAS group. Patients with refractory shock, ASA class ≥3, and perforation size ≥1 cm were excluded. Primary outcome was the length of hospitalization (LOH). Secondary outcomes were functional recovery parameters and morbidity.

Results

Forty-nine and 50 patients were included in standard care and ERAS group, respectively. Patients in ERAS group had a significantly early functional recovery (days) for the time to first flatus (1.47 ± 0.18; p < 0.001), first stool (2.25 ± 0.20; p < 0.001), first fluid diet (2.72 ± 0.38; p < 0.001), and solid diet (3.70 ± 0.44; p < 0.001). LOH in ERAS group was significantly shorter (mean difference of 4.41 ± 0.64 days; p < 0.001). There was a significant reduction in postoperative morbidity such as superficial SSI (RR 0.35, p = 0.02), postoperative nausea and vomiting (RR 0.28, p < 0.0001), and pulmonary complications (RR 0.24, p = 0.04) in the ERAS vs. standard care group with similar leak rates (1/50 vs.2/49).

Conclusion

ERAS pathways are safe and feasible in select patients undergoing emergency simple closure of PDU.

     

Primary diffuse large B-cell lymphoma of the skull mimicking osteomyelitis

Primary lymphomas of the skull are extremely rare, as fewer than 20 cases have been reported in the literature. We describe the case of a 51-year-old woman with Huntington chorea who presented with forehead swelling. Imaging studies detected an enhancing mass in the skull with some destruction of the underlying bone. These features were suggestive of osteomyelitis. Surgical excision was performed, and the mass was found to be a primary diffuse large B-cell lymphoma. The patient was administered postoperative chemotherapy, and she was in complete remission at the 1-year follow-up.