Congenital short bowel with malrotation or nonrotation but without atresia is a very rare anomaly. Two male siblings having the same condition are reported here and in addition the other four cases previously cited in the English literature are reviewed.
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http://dx.doi.org/10.1007/BF01601891 | DOI Listing |
Front Physiol
January 2025
Country School of Information Science and Engineering, Yunnan University, Kunming, China.
Objective: Congenital heart disease with pulmonary arterial hypertension (CHD-PAH), caused by CHD, is associated with high clinical mortality. Hence, timely diagnosis is imperative for treatment.
Approach: Two non-invasive diagnosis algorithms of CHD-PAH were put forward in this review, which were direct three-divided and two-stage classification models.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%.
View Article and Find Full Text PDFZhongguo Dang Dai Er Ke Za Zhi
January 2025
Anemia of prematurity (AOP) is a multifactorial condition associated with congenital iron deficiency, low erythropoietin levels, a short lifespan of red blood cells, and iatrogenic blood loss. AOP is a common complication in premature infants that can adversely affect growth, development, and long-term neurocognitive outcomes. To standardize the diagnosis and treatment of AOP, the Neonatal Clinical Practice Guidelines Expert Committee and the Neonatal Evidence-Based Medicine Group of the Commission of Neonatal Medicine of the Cross-Strait Medical and Health Exchange Association, along with the Editorial Office of the , have developed the "Clinical practice guidelines for the diagnosis and treatment of anemia of prematurity (2025)", based on the World Health Organization's handbook for guideline development and the formulation/revision principles of Chinese clinical practice guidelines.
View Article and Find Full Text PDFCureus
December 2024
General Surgery, Grant Medical College and Sir JJ Group of Hospitals, Mumbai, IND.
Internal hernias are one of the rare causes of intestinal obstruction and usually is the diagnosis of exclusion. Para-duodenal hernias (PDH) are rare congenital disorders that occur due to malrotation of the midgut in the embryonic phase of development. They can be asymptomatic or can present as an incarcerated, strangulated, or even obstructed internal hernia.
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