RESUMO
Background: Imperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance. We describe a set of monozygotic premature twins with imperforate hymen noted at birth, whose mother was diagnosed with the same condition as a teenager. We also elucidate the likely underlying mode of inheritance of imperforate hymen. Method: We utilized the CARE (Case Report) guideline in reporting the cases. Case presentation: These are monozygotic twins born prematurely at 30 weeks of gestation, noted at birth to have bulging cyst-like structures protruding from their vaginas. The twins were not dysmorphic and did not have any other congenital malformations. Over the next few weeks, these cyst-like structures (mucoceles) became less prominent. The genital anomaly was diagnosed as imperforate hymen. Their mother was also diagnosed with an imperforate hymen when she was 12 years old and was treated with hymenectomy. Discussion: This unique occurrence of imperforate hymen in a set of premature monozygotic twins and their mother suggests a plausible autosomal or X-linked dominant mode of inheritance. Given the role of genetic inheritance in imperforate hymen development, it is important to screen female relatives of an index case for this genital anomaly.
RESUMO
PURPOSE: To synthesize evidence on the impact of bronchopulmonary dysplasia (BPD) on the Quality of Life (QoL) of affected individuals from three perspectives: (i) QoL of caregiver; (ii) caregiver's perception of BPD patient's QoL; and (iii) BPD patient's self-reported QoL. METHODS: Quantitative studies (case-control, cohort, and case series) on the QoL of BPD patients or their caregivers were considered. We conducted a systematic literature search of 6 databases (PubMed, Embase, World of Science, CINAHL, PsycINFO, and Chinese National Knowledge Infrastructure) for relevant studies. All databases were searched from the date of inception of the databases to 31 March 2022. Populations of interest were caregivers with preterm babies with BPD, or children/adults who were born premature and diagnosed with BPD. The main outcome measures were total and subdomain QoL scores, and factors affecting QoL. RESULTS: A total of 1078 articles were found; 10 were eligible for analysis, which included 247 caregivers and 1632 patients with BPD. The QoL of patients differed by domains-some were poorer or similar, but none of the QoL domains was better than QoL of healthy controls. Poor sleep and acute care needs of BPD patients negatively affected caregiver's QoL, while increasing illness acuity negatively affected the QoL of BPD patients. The QoL of BPD patients and their caregivers was most adversely affected during the immediate post-discharge period and tended to improve with time. The physical QoL of BPD patients was similar to that of preterm babies without BPD when assessed during late childhood and early adulthood. CONCLUSION: QoL assessment should be performed as an outcome measure and incorporated in the care plan for BPD patients and their caregivers. Systematic Review Registration PROSPERO CRD42021292253.