RESUMEN
Isolated distal semitendinosus (ST) injuries remain an uncommon hamstring injury, with avulsion ruptures reported even less frequently. These injuries occur due to eccentric overloading seen in sprinting or jumping injuries. Treatment ranges from conservative management to surgical tenotomy or reattachment to the tibial bone. We present a unique case of a 30-year-old male with an isolated avulsion rupture of the distal ST tendon after a fall. To our knowledge, this is the first case reported in the literature of an isolated distal ST injury in a non-athlete due to trauma.
RESUMEN
Neonatal hydrometrocolpos (HMC) is a cystic dilatation of a neonate's vagina and uterus occurring secondary to congenital vaginal obstruction, with or without maternal estrogenic stimulation of uterine and cervical glands causing increased secretions during the prenatal and postnatal period. Diagnosis is made using ultrasonography and further confirmed by MRI. HMC in a neonate can rarely present with congenital anomalies such as polydactyly, which may indicate a variety of underlying genetic syndromes. There is a deficit in the literature as to whether the development of HMC in a neonate of consanguineous parents is an isolated finding or solely related to an underlying syndrome. We hope to help bridge this gap by reporting a case of a 12-day-old neonate presenting with hydrometrocolpos and polydactyly, born to consanguineous parents.
RESUMEN
Total parenteral nutrition (TPN) is the intravenous delivery of nutrients and is commonly used in the Neonatal Intensive Care Unit (NICU). Hypersensitivity reactions to parenteral nutrition have seldom been described in the literature. Anaphylaxis is a potentially life-threatening emergency condition that can progress rapidly and involves multiple organ systems. We report a case of anaphylaxis due to TPN in a neonate with observed ultrasound findings during the acute episode never reported in the literature before.
RESUMEN
Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a family of congenital disorders known as chondrodysplasia calcificans punctate (CCP). RCDP is characterized by disproportionately short extremities (rhizomelia), congenital cataracts, and joint contractures. Dysmorphic facial features include a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia. Severe mental retardation with spasticity and seizures may also be present. X-ray of the limbs showed punctate calcifications in cartilage (chondrodysplasia punctata). Genetic testing reveals the severity of phenotype. Treatment is limited to supportive symptomatic relief and prevention of complications. To the best of our knowledge, after searching through PubMed, our case is the first reported case of RCDP in the Middle East.
RESUMEN
Background Physical inactivity has been identified as a major factor in developing and progressing chronic non-communicable diseases such as obesity. The Kingdom of Saudi Arabia ranks high worldwide in rates of obesity. During the coronavirus disease 2019 (COVID-19) pandemic, public health measures have been enforced. These included social distancing, masking, reduction of workplace daily hours, prevention of social gatherings, and home quarantine measures. These ultimately restricted the ability to perform regular physical health activities. The aim of this study is to understand the impact of COVID-19 on physical activity among adults in the Kingdom of Saudi Arabia. Methodology A cross-sectional study was conducted among the Saudi population. An online survey was sent through social media to gather data regarding individual physical activity before and after the start of the COVID-19 restrictions. The data were collected from March 20, 2021, until May 20, 2021, and analyzed using chi-square and paired t-test using the SAS software version 9.4. Results In total, 433 participants completed the survey. There were 183 (42.3%) males, and the majority of the participants were Saudi nationals (284, 65.6%). Most of the participants (181, 41.8%) were in the age group 25-35 years and 253 (58%) had bachelor's degrees. Although the results did not show a statistically significant difference between pre- and post-COVID-19 respondents in terms of physical activity, married participants, participants from the eastern province, and participants who did not exercise regularly were all significantly impacted by lack of exercise compared to their counterparts (p < 0.05). Conclusions Taking measures to prevent the spread of COVID-19 is essential. Nonetheless, recommendations should be sought for physical activity during lockdowns, and large-scale research should be conducted to better understand what causes the exaggeration of sedentary lifestyles during lockdowns and how to prevent them. Further studies need to be conducted, and national guidelines should be made available in case of a future lockdown.
RESUMEN
Adenosine deaminase t-RNA-specific 3 (ADAT3) gene, present on chromosome 19, encodes for an enzyme responsible for deamination of adenosine to inosine. Individuals with ADAT3 mutation display microcephaly, dysmorphic features, neurological, behavioural, and endocrinal pathologies. ADAT3 mutation is a recognized cause of intellectual disability (ID) in Saudi Arabia, particularly amongst consanguineous families. Adrenal insufficiency (AI) is a life-threatening condition with variable clinical signs and symptoms, such as fatigue, nausea, vomiting, hypotension, hypoglycemia, and electrolyte imbalances. One very uncommon presentation of acute AI is rhabdomyolysis, a syndrome characterized by markedly elevated creatinine kinase (CK) levels, myoglobinuria, and muscle pain. We describe a case of an eight-year-old boy with ADAT3 mutation and growth hormone (GH) deficiency presenting with AI and rhabdomyolysis.
