Congenital short bowel syndrome: Cases series in the same family and review of literature.

INTRODUCTION: Congenital short bowel syndrome (CSBS) is a rare congenital gastrointestinal disease and defined as a shortage of consecutive small bowel length present from birth. This syndrome is often accompanied by intestinal malrotation, reduction of peristalsis, and malabsorption. CASES PRESENTATION: This article reports on siblings carrying the Filamin A (FLNA) genetic mutation with CSBS The first case involved a child admitted to the hospital due to intestinal obstruction, undergoing four surgeries due to intestinal torsion with the remaining length of the small intestine only 60 cm, ultimately resulting in the child's death. The second case is a sibling of the first case, admitted to the hospital due to recurrent abdominal pain, diarrhea, and weight loss. With our previous experience, we conducted genetic testing for the filamin A gene (FLNA), revealing that both siblings and their mothers carried a mutation in the gene. CLINICAL DISCUSSION: The diagnosis can be indirectly based on the upper gastrointestinal tract contrast study, however, most of diagnoses are confirmed by exploratory surgery. There is no consensus on nutritional treatment guidelines for infants with congenital short-bowel syndrome. Bowel lengthening procedures have not been recommended for infants with CSBS. A lot of disease-causing mutations have been recorded as CXADR-like membrane protein (CLMP) and FLNA. CONCLUSION: Congenital short bowel syndrome is a rare condition with a poor prognosis. It requires multidisciplinary coordination for effective diagnosis and treatment. Ongoing research into genetic mutations like CLMP and FLNA is vital for understanding CSBS and enhancing patient care.

The relationship between bisphenol A and phthalates with precocious puberty in Vietnamese children.

OBJECTIVES: This study is aimed to explore the correlation between bisphenol A (BPA) and phthalates, including diethylhexylphthalate (DEHP) and dibutylphthalate (DBP), and precocious puberty (PP). METHODS: A case-control study was conducted in Ho Chi Minh City, Vietnam, from November 2021 to April 2022, involving 250 children, with 124 of them diagnosed with PP and 126 serving as controls. We assessed the levels of urinary BPA, DEHP, and DBP in all participants and examined their association with the risk of PP. RESULTS: BPA was detected in 11.3 % of PP cases but was not found in any individuals in the control group (p<0.001). Diethylhexylphthalate metabolite (MEHP) was not detected in any of the samples. Positive urinary results for dibutylphthalate metabolite (MBP) were observed in 8.1 % of PP cases and 2.4 % in the control group, with an odds ratio of 3.6 (95 % confidence interval: 0.97-13.4, p=0.03). CONCLUSIONS: The PP group exhibited a higher prevalence of positive urinary BPA and DBP levels compared to the control group.

A giant thrombus in the right atrium of a patient with acute promyelocytic leukemia M3.

Acute promyelocytic leukemia is a special type of acute myeloid leukemia. Patients with this disease are at high risk of complications. Right atrial thrombosis is a rare but potentially serious complication. A 55-month-old girl with acute promyelocytic leukemia M3 was in her last phase of treatment. Radiologic examination revealed an echo structure in the right atrium that was still present after 6 weeks of anticoagulation treatment with enoxaparin. Cardiac surgery was performed to remove the mass, which was found to be a calcified thrombus. Although this is a rare occurrence, recognition of the possibility of a calcified thrombus may minimize misdiagnosis and allow surgical retrieval if the thrombus is sufficiently large.