Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS).

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in the cohesin complex, which plays a critical role in chromosome segregation and gene expression regulation. Clinical findings typically include dysmorphic facial features (arched eyebrows, synophrys, long eyelashes, ptosis, long philtrum, thin upper lip, and posteriorly rotated ears), growth and mental retardation, upper limb defects (clinodactyly and limb deficiencies), gastrointestinal complications (gastroesophageal reflux, pyloric stenosis, diaphragmatic hernia, malrotation, and volvulus), and heart defects (ventricular and atrial septal defects). In addition, chronic respiratory tract infections including sinusitis and pneumonia have been frequently described in this population. The early recognition and diagnosis of CdLS through genetic testing are crucial to ensure appropriate medical management and early intervention therapies to improve the outcomes of affected individuals. The thyroid gland is not affected by this congenital disease, but complications can arrive in this organ by other disease-related organ malfunctions. Pneumonia-induced thyroiditis is a potentially life-threatening condition that can occur in patients with underlying thyroid disease who also develop pneumonia. The symptoms are due to the hypermetabolic state induced by excess thyroid hormones and include weight loss, heat intolerance, and palpitations. There are many different causes of thyrotoxicosis. It is important to determine the cause since treatment is based on the underlying etiology. The diagnosis of pneumonia-induced thyrotoxicosis can be challenging as symptoms may mimic other conditions and laboratory testing may not always provide a clear answer. The diagnosis is confirmed with low thyroid-stimulating hormone (TSH) and elevated free thyroxine (T4) and triiodothyronine (T3), erythrocyte sedimentation rate (ESR), and C-reactive protein. The management of the condition involves prompt recognition, supportive care, and the use of medications to lower thyroid hormone levels, such as beta-blockers, antithyroid drugs, steroids, and iodine. In severe cases, plasmapheresis or thyroidectomy may be necessary.

DiGeorge Syndrome With Absence of Speech: A Rare Case.

DiGeorge syndrome (DGS) is a rare genetic disorder caused by a deletion or abnormality of a small piece of chromosome 22. This condition can affect multiple organs in the body, including the heart, thymus, and parathyroid glands. While speech and language difficulties are common in individuals with DGS, the complete absence of speech is a rare presentation. This case report presents the clinical features and management of a child with DGS who presented with an absence of speech. The child underwent a multidisciplinary intervention approach, including speech and language therapy, occupational therapy, and special education, to improve their communication skills, motor coordination, sensory integration, academic performance, and social skills. The interventions resulted in some improvement in their overall function; however, speech improvement was not significant. This case report contributes to the literature on DGS by highlighting the potential underlying causes of speech and language difficulties in patients with this condition, and the possible etiologies that may lead to a complete absence of speech, which is a severe manifestation. It also emphasizes the importance of early recognition and intervention with a multidisciplinary approach to management, as early intervention can lead to better outcomes for patients with DGS.

Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay.

Goldenhar syndrome is a rare congenital disorder that affects the development of the craniofacial region, spine, and ears. It is characterized by a wide range of symptoms that can vary in severity and may include facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye abnormalities. Although the cause of Goldenhar syndrome is not fully understood, it is thought to be related to disruptions in the early embryonic development of the affected tissues. The diagnosis is typically made based on physical examination and imaging studies, and management may involve a multidisciplinary team of healthcare professionals, including geneticists, audiologists, and plastic surgeons. Treatment options depend on the specific symptoms and may include surgery, hearing aids, and speech therapy. While Goldenhar syndrome can have significant physical and functional implications for affected individuals, early detection and appropriate management can help improve outcomes and quality of life.

A Meta-Analysis on Predictors of Mortality Among Patients Hospitalized for Acute Exacerbation of Asthma.

The aim of this meta-analysis is to systematically review published studies and identify clinically important factors predicting mortality among patients hospitalized for acute exacerbation of asthma. This study was a meta-analysis conducted in accordance with the MOOSE (Meta-analysis of Observational Studies in Epidemiology) guidelines. A systematic search was carried out on online databases such as PubMed and EMBASE to identify articles on predictors of mortality among patients hospitalized for acute exacerbation of asthma. The search used keywords such as "asthma," "exacerbation," "mortality," and "factors." A total of six articles met the inclusion criteria and were included in the present meta-analysis. The incidence of short-term mortality among patients hospitalized for acute exacerbation of asthma was 6% (95% CI= 3-9%, I-square=99%) with a range of 0.79% to 18% across the studies. The factors significantly associated with short-term mortality in patients hospitalized for acute exacerbation of asthma including diabetes mellitus (RR=2.02, 95% CI: 1.63-2.52, p-value=0.001), pneumonia (RR=3.71, 95% CI: 3.02-4.56, p-value=0.001), and mechanical ventilation (RR: 29.98, 95% CI: 15.46-58.15, p-value=0.001). The present study found that diabetes mellitus, pneumonia, and the use of mechanical ventilation are independently associated with mortality among patients hospitalized for acute exacerbation of asthma. Healthcare professionals need to understand the comorbidities and risk factors associated with mortality in patients hospitalized for acute exacerbation of asthma in order to identify patients who are at increased risk and provide prompt treatment.

Supervivencia y complicaciones en pacientes con cáncer gástrico y de la unión gastroesofágica tratados con quimioterapia perioperatoria más cirugía comparada con cirugía más terapia adyuvante: estudio multicéntrico, Bogotá D.C. 2010-2017 / Survival and complications of patients with gastric cancer and with cancer of the gastroesophageal junction treated with perioperative chemotherapy and surgery compared with patients managed with adjuvant chemotherapy and surgery; multicentric study, 2010-2017. Bogotá, Colombia

Introducción. El tratamiento oncológico adicional a la cirugía en los pacientes con cáncer gástrico, sigue siendo un tema de debate. Se compararon el pronóstico y las complicaciones de la quimioterapia perioperatoria con los de la quimioterapia adyuvante, para identificar el mejor esquema de tratamiento. Materiales y métodos. Se llevó a cabo un estudio longitudinal, retrospectivo y de cohorte histórica, que incluía todos pacientes que recibieron alguno de los dos esquemas de tratamiento. Los principales objetivos fueron evaluar la supervivencia y las complicaciones perioperatorias (fístula, sangrado, muerte y toxicidad) en cada grupo. Resultados. Se incluyeron 168 pacientes que cumplieron los criterios de inclusión. Comparado con el grupo de quimioterapia adyuvante, el grupo de quimioterapia perioperatoria tuvo una mayor supervivencia a 2 y 5 años (80,1 Vs. 61,2 %; 69,8 Vs. 43,6 %) (p=0,003). No hubo diferencia estadísticamente significativa en la tasa de complicaciones perioperatorias entre los dos grupos (4,11 Vs. 10,64 %) (p=0,151). Hubo un aumento en la necesidad de transfusiones en el grupo con quimioterapia perioperatoria. Discusión. La quimioterapia perioperatoria aumenta la supervivencia a largo plazo de los pacientes con cáncer gástrico localmente avanzado, sin un aumento significativo en la tasa de complicaciones perioperatorias. Hay un aumento en la necesidad de transfusiones en el grupo de quimioterapia perioperatoria, sin que esto empeore el pronóstico de los pacientes

Introduction: Oncological management in addition to surgery in patients with gastric cancer remains a matter of debate. We conducted a retrospective longitudinal study to compare the prognosis and complications between perioperative chemotherapy and adjuvant chemotherapy to identify the best treatment scheme. Materials and methods: A longitudinal, retrospective historical cohort study was carried out that included all patients who received one of the two treatment schemes. The main objectives were to evaluate overall survival and perioperative complications (fistula, bleeding, death and toxicity) in each group. Results: 168 patients met the inclusion criteria. Compared with the adjuvant chemotherapy group, the perioperative chemotherapy group had greater survival at 2 and 5 years (80.1% vs. 61.2%, 69.8% vs. 43.6% p=0.003). There was no statistically significant difference in the rate of perioperative complications between the two groups (4.11% vs. 10.64%, p = 0.151). There was an increase in the transfusion requirement in the perioperative chemotherapy group. Discussion: Perioperative chemotherapy increases the long-term survival of patients with locally advanced gastric cancer, without a significant increase in the rate of perioperative complications. There is an increase in the transfusion requirement of the perioperative chemotherapy group without this worsening the prognosis of the patients