Objective  Individuals with cleft lip and palate (CLP) are at a high risk of developing obstructive sleep apnea (OSA). Hypothetically, the severity of OSA might be associated with the morphology of the upper airway (UAW) and the characteristics of the airflow. Thus, the present study aimed to assess and compare, in adults with CLP and skeletal class-III discrepancy, with or without OSA, simulations of airflow resistance and pressure according to the geometrical characteristics of the UAW and cephalometric parameters. Materials and Methods  According to the results of type-I polysomnography tests, the sample ( n  = 21) was allocated in 2 groups: 1) without OSA (N-OSA; n  = 6); and 2) with OSA (OSA; n  = 15). Cephalometric measurements were performed on the cone-beam computed tomography (CBCT) scans of the groups. After three-dimensional (3D) reconstructions, the volume (V) and minimal cross-sectional area (mCSA) of the UAW were generated. Computational fluid dynamics (CFD) simulations were used to assess key airflow characteristics. The results were presented at a significance level of 5%. Results  The UAW pressure values and airway resistance did not differ between the groups, but there was a tendency for more negative pressures (26%) and greater resistance (19%) in the OSA group. Volume and mCSA showed a moderate negative correlation with resistance and pressure. The more inferior the hyoid bone, the more negative the pressures generated on the pharyngeal walls. Conclusion  The position of the hyoid bone and the geometry of the UAW (V and mCSA) exerted effects on the airway-airflow resistance and pressure. However, key airflow characteristics did not differ among subjects with CLP, were they affected or not by OSA.

BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature.
RESULTS: We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones.
CONCLUSIONS: This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11 variants in skeletal and brain development.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%-5% of patients, HHT is caused by pathogenic germline variants (PVs) in SMAD4, and these patients often have additional symptoms of juvenile polyposis syndrome and thoracic aneurysms. The phenotypic spectrum of SMAD4-associated HHT is less known, including the penetrance and severity of HHT. We aimed to investigate the phenotypic spectrum of HHT manifestations in Danish patients with PVs in SMAD4 and compare the findings with current literature.
The study is a retrospective nationwide study with all known Danish patients with PVs in SMAD4. In total, 35 patients were included. The patients were identified by collecting data from genetic laboratories, various databases and clinical genetic departments across the country. Clinical information was mainly collected from the Danish HHT-Centre at Odense University Hospital.
Twenty-nine patients with PVs in SMAD4 (83%) were seen at the HHT-Centre. Seventy-six per cent of these fulfilled the Curaçao criteria, 86% experienced recurrent epistaxis and 83% presented with telangiectatic lesions at different anatomical localisations. Almost 60% had AVMs, mainly pulmonary and hepatic, while none was found to have cerebral AVMs. Fifteen per cent had thoracic aortic abnormalities.
We present a nationwide study of one of the largest populations of patients with PVs in SMAD4 that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria.

BACKGROUND: Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome.
METHODS: To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator.
RESULTS: Overall, 117/172 (68%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated.
CONCLUSIONS: Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

There is a paucity of research on psychosexual outcomes after neo-vaginoplasty in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We compared anatomical and psychosexual outcomes between women with MRKH syndrome who had undergone vaginoplasty and age-matched, sexually active, childless women. Outcomes were assessed using the female sexual function index (FSFI), World Health Organization Disability Assessment Schedule (WHODAS 2.0), General Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire (PHQ-9) tools. Although mean vaginal length was shorter in women with MRKH syndrome than controls (8.6 ± 1.8 cm vs 9.3 ± 2.6 cm), FSFI scores were comparable in both groups (27.8 ± 1.4 vs. 27.3 ± 4.1). Women with MRKH syndrome reported fewer depressive symptoms, and WHODAS 2.0 scores were comparable in both groups (8.9 ± 2.4 vs. 7.8 ± 6.7). Therefore, psychosexual outcomes for women who had undergone neo-vaginoplasty for MRKH syndrome were not different from those of the general population.

The Nairobi Birth Survey was planned with the following objectives: 1) establish the social, obstetric and epidemiological characteristics of the obstetric population of Nairobi, Kenya; 2) examine the pattern and distribution of antenatal and delivery care; and 3) assess the true incidence of stillbirths and 1st 24-hour neonatal deaths, congenital abnormalities and major obstetric complications. The Survey consisted of 1) a study of all stillbirths and 24-hour neonatal deaths over a period of 7 months (March-September 1981), and 2) recording of all births taking place in Nairobi over a 7 week period (June 15-August 4, 1981). During the 7 week period there were 5,293 single births, including 187 perinatal deaths, with a stillbirth rate of 23/1,000 births and a 24-hour neonatal death rate of 12/1,000. The obstetric population was found to be predominantly young, with 57.8% of all mothers being under 25 years of age. Nearly 20% were teenagers. 23% of the mothers were having their 5th or more children at the time of the Survey. In 79.3% of the mothers the antenatal period was uncomplicated. Hypertensive disease in pregnancy was found to be the leading cause of complications, existing in 10.4% of the pregnancies. The majority of the mothers delivered in public institutions. Together with the student midwives, midwives conducted 79.7% of the births. The 3 maternal deaths in this survey give a maternal mortality rate of .56/1,000 deliveries. 701 perinatal deaths occured in the 7 month study, which corresponds to 71.2%. These deaths were mostly associated with complications of labor, including prolonged and difficult labor. In 40.9% of the cases the deaths could have been avoided with appropriate action. In 436 babies that were autopsied, 33 had congenital abnormalities.

This paper presents a study of adolescent pregnancy in which different age groups were compared to establish which age group had the greatest incidence of risk factors. Primiparous adolescents who delivered at the Obstetric Clinic of the Medical School of the University of Sao Paulo, Brazil, between January 1975 and June 1980 were studied. During this period, 13,961 births occurred, of which 105 were to 9-15 year olds (0.7%), 137 were to 16 year olds (0.9%) and 106 were to 17 year olds (0.7%). A large majority of the adolescents in each age group were unmarried; similarly, a lack of adequate prenatal care was observed in all 3 groups. A gestational age of less than 38 weeks was encountered in 30.5% (30 cases), and 16.9% (18 cases), respectively, in the 9-15, 16, and 17 year age groups. Among pregnancy complications, there was an elevated incidence of arterial hypertension in all 3 groups, as well as an increased occurrence of eclampsia among the 9-15 year olds. Urinary infections and anemia were also evident during pregnancy. Analgesia was required in 22 cases (20.9%) of the 9-15 year old age group, in 3 cases (2.2%) of the 16 year age group, and in 2 cases (1.9%) of the 17 year age group. Fetal presentation, duration of labor, type of birth (normal, forceps, or cesarean), puerperal morbidity, birth weight, and perinatal mortality for each of the 3 groups are presented in tables. Neonatal deaths were determined to be the consequence of prematurity and its complications except in 1 case of congenital heart disease which occurred in the 17 year old group. Neonatal jaundice was the most frequent cause of morbidity in the newborns. The results of this study agree with those of similar studies appearing in the literature. The authors attribute the greater frequency of premature births among 9-16 year olds to immaturtity of uterine muscle fiber, deficient prenatal care, and the emotional tensions to which the adolescents were subjected, as well as to medical complications of pregnancy and general maternal physical immaturity. The 17 year olds presented behavior closer to that of the adult population.

This report reviews existing evidence concerning the associationg between spermicide use and congenital defects. A recent study by Jick et al. found a 2-fold increase in various congenital defects in infants born to spermicide users. These disorders fell into 4 major categories: limb reduction deformities, neoplasms, chromosomal abnormalities, and hypospadias. However, no single, well-defined syndrome was observed among the infants of spermicide users, indicating that there may not be a causal relationship. Other researchers have suggested that Jick et al.\'s results may reflect sample variance or underascertainment of defect rate prevalence in the control infants. Detergent products such as nonoxynol and octoxynol are generally considered to be safe. A recent study comparing women exposed to nonoxynol in a vaginal sponge to nonexposed controls failed to detect systemic effects from the drug. It is possible, however, that carrier agents contained in spermicides may have an effect. Although the results obtained by Jick et al. should at most be considered as tentative, further epidemiologic studies are needed. Patients who wish to take added precautions can be encouraged to use condoms or diaphagms with their spermicides to more effectively prevent pregnancy from spermicide failure. If pregnancy is suspected, an early pregnancy from spermicide failure. If pregnancy is suspected, an early pregnancy test should be obtained to avoid spermicide use during early gestation.

CONCLUSIONS: The four compared surveys clearly show that paediatricians from different backgrounds encounter these moral dilemmas in their everyday practice. Hungarian paediatricians facing morally significant decisions of discontinuation of treatment in defective newborns were permissive toward passive euthanasia like their Australian and Canadian colleagues, but were almost unanimously against active euthanasia like their Polish colleagues. The results of our study revealed a strong paternalistic attitude among Hungarian doctors, unwillingness to include other professionals in a discussion of moral problems and neglect of the nurses\' views in these matters. Many physicians in the Hungarian study group were not aware of the legal ramifications in such cases. These findings were similar to the results of the Polish study. It is plausible that the paternalistic attitude and ignorance of the relevant law is common in all \'former\' socialist countries. The Australian, Canadian and Hungarian doctors displayed more understanding and tolerance towards passive euthanasia. Many physicians in all study groups seemed to be not familiar with the legal regulations of their own country. The paediatricians of the four studies showed the greatest difference in their attitudes towards active euthanasia, with the Australian community being more permissive, the Canadian, Polish and Hungarian community rejecting it.

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