UNASSIGNED: To describe the demographic distribution of cystic fibrosis (CF) in Omani children, estimate the national prevalence, and provide updated mutational panels of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
UNASSIGNED: We conducted a retrospective cross-sectional study of all CF patients who had been diagnosed and followed-up at Sultan Qaboos University Hospital and Royal Hospital in Oman between 2006 and 2020. Data were collected from electronic hospital records and telephone interviews.
UNASSIGNED: A total of 227 patients with CF were included in the study. Geographical clusters of the disease were identified in the governorates of Al-Batinah, A\'Dhahirah, and A\'Dakhiliyah. Parental consanguinity and family history of CF were present in 68.3% and 69.6% of the patients, respectively. The most common CFTR mutation was p.Ser549Arg (52.0%), followed by p.Phe508del (12.3%), and c.2988+1G>A (4.4%). Three novel CFTR mutations were identified, viz., Leu88TyrFs*, p.Asp192Val, and c.4242+1G>C.
UNASSIGNED: The estimated prevalence of CF in Oman is 10.3 per 100 000 individuals. Premarital genetic counseling and preimplantation genetic testing are recommended in CF-prevalent regions.

This is a case report of a neonate who was antenatally diagnosed with jejunal atresia which turned out to be duodenal atresia with apple peel syndrome. A previous sibling, who also had apple peel but with jejunal atresia, succumbed to sepsis after surgery. The first sibling had jejunal stenosis and had died of sepsis following surgery. Combination of duodenal atresia with apple peel is extremely rare. This coupled with a familial condition is rarer still. This case was challenging due to the short length of the gut and prolonged need for total parenteral nutrition and sepsis in postoperative period.

Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.

Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of screen positive determinations as made by a Canadian newborn screening program in a cohort of infants born in Matlab, Bangladesh. Dried newborn cord and heel-prick blood spot samples collected as part of a validation study nested within a preterm birth research cohort were collected between January 2017 and July 2018 and analyzed in a Canadian newborn screening laboratory where the laboratory\'s disease panel and screening thresholds were applied.
A total of 1661 newborn samples (520 heel-prick and 1141 cord blood samples) were available for analysis. Based on the applied screening thresholds, 61 samples (22 by heel-prick and 39 by cord blood) were screen positive for conditions included in the Canadian disease panel. Congenital hypothyroidism was the most common determination for heel-prick (n = 17) and cord blood (n = 12) samples. Carriers of hemoglobinopathy variants were identified in 6.9% of both tested heel-prick and cord blood samples.
This study provides insight into the nature and frequency of treatable congenital conditions in a rural Bangladesh community where such data were previously unavailable. As comment to the feasibility of newborn screening in the region we confirm that screening based on cord blood sampling continues to be the most acceptable modality to parents in such settings. Acknowledged barriers include early infant discharge, which may affect the reliability of initial screening thresholds to determine disease risk. We further highlight the importance of continuing efforts in the country to identify infants with congenital hypothyroidism.

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BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive.
METHODS: Using Danish nationwide registers, we investigated redeemed prescriptions of psychotropic medication during 1996 to 2012 and visits to psychiatrists and psychologists during 1996 to 2011 among individuals born with nonsyndromic OC in Denmark between 1936 and 2009 and a comparison cohort of individuals without OC. This includes 8244 individuals with OC and 82,665 individuals without OC.
RESULTS: The Cox regression analysis revealed 12% (95% confidence interval [CI], 7 to 16%) increased risk of using any psychotropic medication for individuals with OC. When examining by cleft type, higher risks for medication use were observed in individuals with cleft lip and palate (CLP) or cleft palate (CP) only. The largest increased relative risk was found for use of antipsychotics and stimulants for individuals with CP followed by use of antipsychotics for individuals with CLP. We found increased risk of visits to psychiatrists for individuals with CP and no increased risk for visits to psychologists for either group.
CONCLUSIONS: This study indicates that a small group of individuals with nonsyndromic OC, in particular those with palatal involvement, have greater risk of using psychotropic medications. However, elevated use was also observed among younger individuals with cleft lip (CL) only. There seems to be only a modest increase in visits to health professionals for psychological reasons. Undiagnosed syndromes (e.g., 22q11 deletion syndrome), may, however, contribute to an overestimation of the associations. Birth Defects Research 109:824-835, 2017. © 2017 Wiley Periodicals, Inc.