Girls

BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency...

INTRODUCTION: Familial Mediterranean fever (FMF) is the most frequent monogenic auto-inflammatory disease worldwide responsible for episodes of fever, serositis and musculoskeletal symptoms. Inflammatory attacks are responsible for sedentary behavior and FMF patients may be at increased cardiovascular risk. Cardiorespiratory Fitness (CRF) and physical capacities during adolescence are associated with cardiovascular mortality in adulthood. In this study, we aimed to describe the physical fitness of FMF adolescents...

OBJECTIVE: The aims of this study were to (a) evaluate the lifetime prevalence of post-traumatic stress disorder (PTSD) according to sociodemographic characteristics, (b) determine sociodemographic factors associated with PTSD, (c) estimate the lifetime prevalence rates of comorbidities by age and gender, and (d) assess the proportion of traumatic events in the non-PTSD sample and the PTSD sample, according to gender. METHODS: The data used for the present study were obtained from the IRCAP study which was a cross-sectional, community-based study on 29,250 children and adolescents aged 6-18 years from all provinces of Iran, which was done using multistage cluster sampling...

Paraneoplastic pemphigus is a rare, life-threatening autoimmune disease that is clinically characterized by mostly extensive and refractory mucosal erosions and polymorphous skin lesions. We report here on a 16-year-old girl with isolated oral erosions, in whom mucosal pemphigoid was initially suspected and after treatment with prednisolone and dapsone marked improvement was achieved. However, a few months later the patient developed massive respiratory insufficiency as a result of bronchiolitis obliterans, so that a lung transplant was planned...

IMPORTANCE: Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study. OBJECTIVE: To examine the extent of stigma, dependence on disease visibility and severity, and association with mental health and quality of life (QOL) in chronic pediatric skin disease. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional, single-visit study was conducted at 32 pediatric dermatology centers in the US and Canada from November 14, 2018, to November 17, 2021...

OBJECTIVE: To assess weight velocity and the age at peak weight velocity and to construct weight velocity percentiles in 4-17-year-old apparently healthy Indian children. METHOD: This longitudinal study enrolled 1045 children (588 boys) from Pune belonging to middle and upper socioeconomic class aged 4-17 years. The study parameters included annual height and weight measurements recorded longitudinally from 2007 to 2013. A total of 5225 weight velocity measurements (2940 on boys) were computed...

Congenital zygomaticomaxillomandibular (ZMM) fusion is an extremely rare and debilitating condition. Fusion of the jaws results in a severe limitation of the mouth opening accompanied by breathing and feeding difficulties. Mandibular fusions to the maxilla, palate, zygoma, and temporal bone are described in literature. We present the case of 4-year-old girl diagnosed with congenital unilateral ZMM fusion. She was treated surgically at 1 year and at 4 and a half years to release the fusion and to improve mouth opening...

Schwannomas are not uncommon in the maxillofacial region; however, those with intraoral localization and, in particular, the hard palate are among the least frequently described. In the current case report, we present a 17-year-old girl with a histologically verified schwannoma of the hard palate on the right, originating from the right greater palatine nerve. In her case, despite the lysis of the palatine bone from the tumor compression, the disease is asymptomatic, causing only a weak sensation of local discomfort...

BACKGROUND: COVID-19 pandemic widely disrupted health services provision, especially during the lockdown period, with females disproportionately affected. Very little is known about alternative healthcare sources used by women when access to conventional health services became challenging. This study examined the experiences of women and adolescent girls regarding access to sexual and reproductive health (SRH) services during the COVID-19 lockdown in Nigeria and their choices of alternative healthcare sources...

BACKGROUND: Since 2020, China has actively promoted HPV vaccination for eligible adolescent girls through various pilot programmes. This study investigated parental willingness and hesitancy towards the government-sponsored, free human papillomavirus (HPV) vaccination for eligible adolescent girls in Shenzhen, Southern China. METHODS: From June to August 2022, a cross-sectional survey was conducted with parents of girls entering Grade 7, employing an adapted Vaccine Hesitancy Scale to assess vaccine hesitancy and logistic regression to identify factors influencing willingness to accept the free domestic vaccines...

BACKGROUND: Indocyanine green fluorescence angiography, a validated noninvasive imaging technique, is used to assess tissue vascularization. Here, we report three infant patients who underwent intraoperative indocyanine green fluorescence angiography and suffered from postoperative complications caused by the lack of weak fluorescent intestinal resection and assessed residual intestinal perfusion. CASE PRESENTATION: We observed the clinical characteristics and operative findings of patients treated from January 2022 to December 2022...

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INTRODUCTION: Studies of gonadotropin-releasing hormone analogues [intramuscular (IM) leuprolide acetate (LA) and triptorelin] for treatment monitoring of central precocious puberty (CPP) demonstrate this approach is effective for confirming pubertal hormone suppression. Herein, we provide new data using subcutaneous LA (SC LA) suggesting similar efficacy for treatment monitoring. METHODS: PubMed, Embase, and CINAHL were searched for studies of GnRHa use to monitor treatment of CPP...

INTRODUCTION: Plastic surgeons can help to eliminate stunting by surgically treating children born with congenital craniofacial anomalies such as tongue-tie, or ankyloglossia. Releasing ankyloglossia can help to support breastfeeding and the later development of orofacial anatomy and physiology. Failure to do so can lead to growth and development difficulties in children. We report a heartbreaking case of a stunted 8 year-old female with underdiagnosed and untreated ankyloglossia...

Negative life events (NLE) have been associated with increased alcohol use (AU) during adolescence. However, whether this risk association may be modified by leisure activities such as sports participation (SP) remains poorly understood. This study examined whether accumulated family-specific NLE in particular were associated with greater AU, and if so, whether SP moderated this association to reduce AU among high-NLE adolescents. We examined five annual assessments from a nationwide cohort of 3,422 Norwegian adolescents (13-15 year-olds; 55...

CONTEXT: Reliable estradiol (E2) reference intervals (RIs) are crucial in Pediatric Endocrinology. OBJECTIVES: To develop a sensitive ultra-performance liquid chromatographic tandem mass spectrometry (UPLC-MS/MS) method for E2 in serum, to establish graphically represented RI percentiles and annual RIs for both sexes and to perform a systematic literature comparison. METHODS: First, an UPLC-MS/MS method for E2 was developed. Second, graphically represented RI percentiles and annual RIs covering 0-18 years were computed (cohort of healthy children (1181 girls, 543 boys))...

Various autoimmune diseases have been reported to develop as a result of a coronavirus disease 19 (COVID-19) infection. There have been some reports of COVID-19-triggered autoimmune hepatitis and autoimmune hemolytic anemia infection, but none have reported simultaneous onset of these diseases. A 15-year-old girl was admitted to our hospital with severe liver injury and anemia. Three weeks before admission, her father was diagnosed with COVID-19, after which she became aware of a sore throat. Two weeks later, she visited her doctor for malaise...

PURPOSE: Recent research has suggested that autism may present differently in girls compared to boys, encouraging the exploration of a sex-differential diagnostic criteria. Gender differences in diagnostic assessments have been shown on the ADOS-II, such that, on average, females score significantly lower than males on all scales and are less likely to show atypicality on most items related to social communicative difficulties. Yet, gender differences in the latent structure of instruments like the ADOS-II have not been examined systematically...

BACKGROUND: Maximal conditioning contractions (CCs) can lead to the enhancement of evoked-twitch characteristics in human skeletal muscle. This phenomenon is termed post-activation potentiation (PAP). In the knee extensors, PAP is greater in men compared with boys. In adults, the optimal CC duration for PAP is ~ 10 s. We examined child-adult differences in PAP among females and aimed to determine the optimal CC duration in girls and women. METHODS: Eleven girls (9...

The current use of intracorporeal left ventricular assist devices in children is still limited by small body dimensions. Many children weighing of less than 30 kg requiring durable mechanical circulatory support are implanted with the Berlin Heart EXCOR, a paracorporeal device. We present the case of a girl aged 10 years with a body surface area of 1.01 m2 undergoing a safe and effective HeartMate3 implantation despite extremely small thoracic dimensions. Using computed tomography-derived three-dimensional (3D) reconstruction, it was possible to simulate several device positions finding the best HeartMate3 lodging...