The laparoscopic approach of high imperforate anus allowed an easy control of the fistula and helped to determine the accurate passage through the levator ani. Nevertheless, technical points have to be improved,such as coprostasis before fistula section to avoid stool leakage, rectum tacking to prevent prolapse,and calibration of muscle channel to avoid stenosis.
Objectives:The present study aimed to assess long-term functional outcomes of children with anorectal malformations (ARMs) across a network of expert centers in France.Methods:Retrospective cross-sectional study of patients ages 6–30 years that had been surgically treated for ARM. Patient and ARM characteristics (eg, level, surgical approach) and functional outcomes were assessed in the different age groups.Results:Among 367 patients, there were 155 females (42.2%) and 212 males (57.8%), 188 (51.2%) cases with, and 179 (48.8%) higher forms without, perineal fistula. Univariate and multivariate statistical analyses with logistic regression showed correlation between the level of the rectal blind pouch and voluntary bowel movements (odds ratio [OR] = 1.84 [1.31–2.57], P < 0.001), or soiling (OR = 1.72 [1.31–2.25], P < 0.001), which was also associated with the inability to discriminate between stool and gas (OR = 2.45 [1.28–4.67], P = 0.007) and the presence of constipation (OR = 2.97 [1.74–5.08], P < 0.001). Risk factors for constipation were sacral abnormalities [OR = 2.26 [1.23–4.25], P = 0.01) and surgical procedures without an abdominal approach (OR = 2.98 [1.29–6.87], P = 0.01). Only the holding of voluntary bowel movements and soiling rates improved with age.Conclusion:This cross-sectional study confirms a strong association between anatomical status and functional outcomes in patients surgically treated for ARM. It specifically highlights the need for long-term follow-up of all patients to help them with supportive care.
Objectives Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients. Methods We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH. Results We consecutively included 31 patients aged less than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08–2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous. Conclusions 11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.
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