Abudwak Maternity and Children's Hospital

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder characterized by ectopic calcifications in periarticular soft tissues due to mutations in genes such as GALNT3, FGF23, or KL, leading to FGF23 deficiency or resistance and subsequent hyperphosphatemia. This study describes a 12-year-old girl from Jazan, Saudi Arabia, who presented with progressive right hip pain and swelling, initially managed as an infection. Imaging revealed periarticular calcifications, and laboratory tests confirmed hyperphosphatemia with normal calcium and parathyroid hormone levels. Genetic testing identified a homozygous pathogenic variant in GALNT3, confirming HFTC type 1. Recurrence occurred 1.5 years later in the right elbow, with similar radiographic findings. Further evaluation via CT demonstrated basal ganglia and parotid gland calcifications, highlighting systemic involvement.Management included complete surgical resection of calcific deposits, followed by acetazolamide (500 mg twice daily) and a low-phosphorus diet. Over one year of multidisciplinary follow-up, no recurrence was observed. Histopathology revealed microcalcifications with a giant cell reaction, consistent with HFTC. HFTC’s diagnosis relies on clinical, biochemical (hyperphosphatemia), and radiological findings (multilobulated periarticular calcifications), supplemented by genetic testing. Treatment involves phosphate-lowering strategies (dietary restriction, phosphate binders, acetazolamide) and surgical excision for symptomatic lesions. This study underscores the importance of early recognition, genetic confirmation, and a multidisciplinary approach to prevent complications and recurrence.

The prevalence and consequences of premenstrual dysphoric disorder (PMDD) and premenstrual syndrome (PMS) among Saudi women are not well understood. Consequently, the purpose of this research is to ascertain the frequency, course, and contributing factors of PMDD and PMS in the Asir area of Saudi Arabia. A cross-sectional study was conducted inAsir, Saudi Arabia, using a pre-designed questionnaire distributed among adult female patients to five primary healthcare facilities (PHCs) that were chosen at random in the Asir Region. Data were analyzed using IBM Statistical Package for the Social Sciences (SPSS, version 15). The study included 506 participants; 81% of them were Saudi and 19% were non-Saudi. A percentage (46.2%) of the participants were aged between 21 and 30 years old. A total of 369 (72.9%) participants have PMS. Regarding PMS symptoms, 79.1% reported mood changes, 59.3% tantrums, 56.7% change in appetite, 47% acne, 41.9% back and joint pain, and 43.1% reported sleep disorders. Almost half (42.1%) of the participants receive treatment to relieve the symptoms of PMS (72% of them receive paracetamol and 6.1% receive nonsteroidal anti-inflammatory drugs (NSAIDs)). Some (6.4%) exercise during the menstrual cycle to relieve symptoms of PMS, while 31% eat healthy foods at the time of period to relieve the symptoms of PMS. The prevalence of PMS/PMDD was among the reported figures worldwide. There was a significant association between age and the use of contraceptives with symptoms of PMS/PMDD among the studied sample.

11 Kluczowe jest kojarzenie potrzeb i potencjału -por. Bazuń i in. 2021. 12 Warto zaznaczyć, że w odróżnieniu od personalizowanych działań pomocowych prowa dzonych w nurcie środowiskowym praktyki sprzedażowe firm komercyjnych starają się jedynie stworzyć wrażenie szczególnego (zindywidualizowanego i podmiotowego) traktowania pojedyn czych klientów, podczas gdy chodzi o obrót masowo produkowanymi towarami i świadczenie standardowych usług. 13 Por. w tym tomie rozdział 4 autorstwa Mateusza Glinowieckiego (s. 81-100).

This article addresses questions posed by a renal mass in early infancy. Are changes required in the standard approach to a renal mass in this age group? Are diagnostic possibilities transformed enough to warrant a change of approach in a setting like this? What are the ‘benign’ lesions that require consideration? What is the physician’s liability in performing a nephrectomy in a patient with a problem like this? A review of the literature suggests that the vast majority of renal space occupying lesions in children of this age are still Wilms’ tumor. Unless diagnostic refinements reach a higher level, the present protocols should be persisted with. Keywords : cystic nephroma, infancy, liability, pyelonephritis, renal mass, Wilms tumor, xanthogranulomatous