Urinary tract dilation classification system for predicting surgical management and urinary tract infection in neonates and young infants: a systematic review and meta-analysis.

BACKGROUND: The urinary tract dilation classification system has recently been developed to ensure a unified approach to describe urinary tract dilation in neonates and young infants. However, the predictive value of this system for surgical intervention or urinary tract infection (UTI) has not yet been evaluated in a meta-analysis. OBJECTIVE: This systematic review and meta-analysis aimed to evaluate the utility of a postnatal urinary tract dilation classification system for predicting surgical management or a UTI occurrence. MATERIALS AND METHODS: As the urinary tract dilation classification system was introduced in 2014, we searched Embase and PubMed databases for studies published between January 2014 and December 2022. Original articles that reported surgical interventions or UTI episodes according to postnatal urinary tract dilation grades were included. The pooled odds ratio (OR) was calculated, using either the fixed-effects or random-effects model, given the lower urinary tract dilation grades as the base category. The quality of the included studies was evaluated using the Newcastle-Ottawa scale. RESULTS: Of the 285 articles reviewed, eight (comprising 2,165 children) were included in the analysis. The studies were of medium-to-high quality. Pooled analysis demonstrated that urinary tract dilation P3 (combined OR, 21.41; 95% confidence interval [CI], 15.72-29.17) and urinary tract dilation P2-P3 (combined OR, 65.17; 95% CI, 33.08-128.38) were associated with surgical intervention. The urinary tract dilation P3 (combined OR, 2.11; 95% CI, 1.56-2.85) and urinary tract dilation P2-P3 (combined OR, 3.36; 95% CI, 2.43-4.63) were associated with UTI episodes. CONCLUSION: The postnatal urinary tract dilation classification system is useful for predicting the need for surgical management and UTI episodes in infants with hydronephrosis.

The impact of caring for adults with intellectual disability on the quality of life of parents.

BACKGROUND: Because of an increase in life expectancy and de-institutionalisation, many adults with intellectual disability (ID) live with and are cared for by their parents throughout their adult lives. Because of caring demands, the quality of life (QOL) of parents may be affected. The study explored the impact of caring for an adult with ID on the QOL of parents. METHODS: Participants were 12 parents who were the full-time carers of an adult with ID. Participants were interviewed about the effect of caring on their QOL. Interviews were analysed thematically. RESULTS: Caring had a positive impact on QOL by enabling participants to develop relationships and receive support, participate in leisure activities, achieve a sense of personal satisfaction and enable a more positive appraisal of their lives. Caring had a negative impact on participants' QOL by restricting their relationships, leisure activities and employment opportunities. Caring was also associated with financial insecurity, frustrations at the service system and fear of what the future held for their offspring. CONCLUSIONS: Caring for an adult with ID had both positive and negative effects on parents' QOL. Improving services and service delivery, including the provision of residential services and respite, would address many of the issues that were reported to have a negative impact on parents' QOL.

Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Intracapillary glomerular metastases in a nephrectomy specimen removed for ipsilateral renal cell carcinoma.

A case of intraglomerular metastases observed in a nephrectomy specimen removed for primary renal cell carcinoma is reported. The intraglomerular metastases arose by dissemination of malignant cells into the systemic circulation via invasion of the renal veins. Intraglomerular metastases are therefore an indicator of malignant dissemination which in turn should be associated with a poor prognosis. It is recommended that in nephrectomies undertaken for primary renal cell carcinoma at least one random block of renal cortex should be examined to confirm or exclude intraglomerular metastases.

Adult Hirschsprung's disease mimicking Crohn's disease.

Although Hirschsprung's disease is diagnosed most commonly during infancy and childhood, some cases are seen in adults, when clinical features are usually similar to those described in younger patients. We report a case whose unusual clinical presentation led to an initial diagnosis and subsequent treatment of colonic Crohn's disease. The correct diagnosis was made only after motility measurements suggested the possibility of adult Hirschsprung's disease and prompted the histological examination of the myoenteric plexus, which led to the establishment of the correct diagnosis.

Urticaria pigmentosa and acute lymphoblastic leukaemia.

Childhood urticaria pigmentosa is generally considered to have a good prognosis with the majority of cases undergoing spontaneous resolution. However, there have been a number of reports of haematological malignancies occurring in association with urticaria pigmentosa. We describe a child with extensive urticaria pigmentosa and a congenital cardiac anomaly who developed acute lymphoblastic leukaemia and suggest a possible common aetiology.

Audit of compliance with antenatal protocols.

OBJECTIVE: To assess the implementation of action protocols dictated by antenatal risk factors noted at the initial (booking) antenatal visit. DESIGN: Retrospective study of 2000 women delivered between 1 March 1990 and 29 March 1991. SETTING: Maternity department of a district general hospital supporting a multiethnic population in inner London. MAIN OUTCOME MEASURES: Comparison of clinical actions performed against those dictated by the department's protocols. Analysis according to clinical importance, gestation at booking, maternal age, parity, birth order, ethnic origin, and certainty of gestational age. RESULTS: Interobserver agreement between the two auditors was good (kappa statistic for risk factors detected, 0.78; for actions generated, 0.80). Of the 15,658 actions dictated by department protocols, 3673 (23.5%) were actually performed by the clinicians. The 63 combinations of risk factors and actions believed by consultants to be of particular clinical importance had an action rate of 28.3% compared with 18.6% for those considered less important (p < 0.001). Mothers who first visited the hospital antenatal clinic at or before 24 weeks' gestation had 25.2% of relevant protocols fulfilled (p < 0.001). Compliance was significantly improved in women aged 36 or over (32.4%), black women (24.9%), and cases of uncertain gestation (24.5%). Parity and birth order were not associated with an altered action rate. Ethnic origin deemed as "other" (than white, black, Asian, or oriental) or "unknown" was associated with poor compliance (19.3%). CONCLUSIONS: Compliance to a set of agreed protocols was poor even though a computer system was available and a protocol manual had been distributed. Protocols were more likely to be implemented in women who booked early and in some groups of women deemed at high risk including older mothers, black women, and those denoted as having uncertain gestational age.

Developing a robust and efficient pathway for the referral and investigation of women with post-menopausal bleeding using a cut-off of < or =4 mm for normal thickness.

The majority of women with post-menopausal bleeding (PMB) do not have endometrial cancer, and transvaginal ultrasound (TVUS) is accepted as the screening tool of choice to identify those at highest risk of malignancy. A new referral pathway was instigated in 2000, with patients only being referred to a gynaecologist following an abnormal TVUS result. An initial audit revealed a low positive predictive value for TVUS and a low incidence of detected malignancy. The cut-off value for a normal endometrium was increased from 3 mm to 4 mm in line with published data. This re7hyphen;audit evaluated the effectiveness of implemented changes and identified other areas for improvement. Of the 277 women referred during the study period, 193 had an abnormal or unseen endometrium and were subsequently seen by a gynaecologist. For patients without a histological diagnosis, clinical notes were reviewed and the hospital cancer database scrutinized for all endometrial cancers. Despite a 15.4% increase in referrals, only an additional 2.9% were assessed by gynaecologists. 14 cases of malignancy were identified with a mean endometrial thickness (ET) of 15.7 mm. Failed endometrial sampling was more prevalent with a minimally thickened endometrium. 80 patients with abnormal TVUS had no recorded histological diagnosis. Increasing the ET cut-off value has reduced unnecessary investigations in women at low risk of malignancy. No woman discharged back to her GP has been diagnosed with an endometrial malignancy within 1 year of initial referral. An algorithm has been proposed to further improve the investigation of women with PMB following an abnormal TVUS.

Electrical shock sustained in pregnancy followed by placental abruption.

The case of a pregnant woman suffering a large placental abruption following electric shock at 32 weeks' gestation is reported. No other such cases have been published in the literature.

Laparoscopic ventrosuspensions. A review of 72 cases.

Laparoscopic ventrosuspension is simple to perform after diagnostic laparoscopy. Serious postoperative complication is unlikely. However, patient follow-up over 6 months has not confirmed the usefulness of laparoscopic ventrosuspension in the management of deep dyspareunia or pelvic pain in association with a retroverted uterus. The success rate of laparoscopic ventrosuspension at 6 months varies from 18.6% to 46.5%. The prior use of a Hodge pessary does not predict the success of laparoscopic ventrosuspension.

A large labial adhesion following normal delivery.

Labial adhesions seldom occur following vaginal delivery. We report the case of a large labial adhesion forming after an uneventful pregnancy and normal delivery in a multiparous patient.

Medical audit: the problem of missing case-notes.

This paper reports the results of a case-note audit undertaken to detect the antenatal risk factors found at the initial booking visit, including the subsequent clinical action taken. From a total of 2,139 case-notes of women booked via an obstetric computer system, and delivered between March 1990 and March 1991, 136 (6.4%) were missing. The results showed that these 136 mothers experienced significantly worse delivery outcomes, ie higher incidence of perinatal death; preterm labour; a baby with a low Apgar score and low birth weight. There was also a higher incidence of perinatal death and babies with a low Apgar score for women booked manually compared with those booked via the computer system. These results show that many audit procedures may be the subject of substantial bias due to the problem of missing information. The extended use of a computer-based medical record system should help to resolve this problem, although hybrid information systems can themselves be biased.

An investigation of awareness of antenatal protocols.

Previous audit at the Homerton Hospital had revealed a poor level of compliance with established antenatal protocols mandated by risk factors detected at the booking visit. Medical staff were questioned as to their awareness of five of the most important protocols and their response was analysed by a new scoring system. The scores were generally low though consultants scored more highly than junior staff. Scores were related to the length of obstetric experience and duration of work in the obstetric unit but were not related to frequency of the use of the protocol manual nor to the last time that reference was made to the manual. To improve compliance within the unit, the following recommendations were made: (1) regular revision of protocols to incorporate the current views of senior clinicians and (2) improved dissemination of information. The scoring system described here should prove to be a simple and effective method for the assessment of protocols within any unit.

A national survey to assess current use of computerised information systems in obstetrics.

OBJECTIVE: To ascertain the number and type of obstetric computer systems (OCS) in Great Britain, and to ascertain user satisfaction with these systems. DESIGN: A postal questionnaire was circulated to every consultant obstetrician in Great Britain at the beginning of 1992. MAIN OUTCOME MEASURES: Information was sought on the hardware, software and uses of obstetric computer systems. Satisfaction with, benefits and problems of the system were also assessed. RESULTS: There was an 87.5% response rate. Of the 264 units questioned, 100 units reported that they had a computer system. Sixty-five units used terminals connected to a mainframe or minicomputer and 17 used stand-alone personal computers (PCs). Local area networks (LANs) were used in 19 units and wide area network (WANs) in 22 units. Software varied from commercial turnkey systems to in-house systems. The quoted annual running cost ranged from 50 pounds to 48,000 pounds. Most units were satisfied with their system. Problems included slow operating times, unreliability, user unfriendliness, deficiencies in training and inadequate customer support services. CONCLUSIONS: Obstetric computer systems are now coming into widespread use. Despite problems, the use of such systems is likely to increase. This survey establishes a database for those units who are considering acquiring or changing their computer system for the purpose of audit or research.

Ectopic pancreatic rests: a rare cause of persistent umbilical discharge.

Ectopic pancreatic rests are rare. We report two cases discovered in infants who underwent surgical exploration of the umbilicus for persistent umbilical discharge with peri-umbilical excoriation. A shallow sinus leading to a firm cyst was excised in both infants, and histopathological study confirmed the presence of exocrine and endocrine pancreatic tissue. There is only one other case of ectopic umbilical pancreatic tissue reported, and this was in a patient presenting with an umbilical mass.