A comprehensive review of genetic causes of obesity.

BACKGROUND: Obesity is a multifactorial chronic disease with a high, increasing worldwide prevalence. Genetic causes account for 7% of the cases in children with extreme obesity. DATA SOURCES: This narrative review was conducted by searching for papers published in the PubMed/MEDLINE, Embase and SciELO databases and included 161 articles. The search used the following search terms: "obesity", "obesity and genetics", "leptin", "Prader-Willi syndrome", and "melanocortins". The types of studies included were systematic reviews, clinical trials, prospective cohort studies, cross-sectional and prospective studies, narrative reviews, and case reports. RESULTS: The leptin-melanocortin pathway is primarily responsible for the regulation of appetite and body weight. However, several important aspects of the pathophysiology of obesity remain unknown. Genetic causes of obesity can be grouped into syndromic, monogenic, and polygenic causes and should be assessed in children with extreme obesity before the age of 5 years, hyperphagia, or a family history of extreme obesity. A microarray study, an analysis of the melanocortin type 4 receptor gene mutations and leptin levels should be performed for this purpose. There are three therapeutic levels: lifestyle modifications, pharmacological treatment, and bariatric surgery. CONCLUSIONS: Genetic study technologies are in constant development; however, we are still far from having a personalized approach to genetic causes of obesity. A significant proportion of the affected individuals are associated with genetic causes; however, there are still barriers to its approach, as it continues to be underdiagnosed. Video Abstract (MP4 1041807 KB).

Ifosfamide-induced nephrotoxicity in oncological patients.

INTRODUCTION: Ifosfamide is an alkylating chemotherapeutic agent used in the treatment of various neoplasms. Its main adverse effects include renal damage. AREAS COVERED: A comprehensive review was conducted, including 100 articles from the Scielo, Scopus, and EMBASE databases. Ifosfamide-induced nephrotoxicity is attributed to its toxic metabolites, such as acrolein and chloroacetaldehyde, which cause mitochondrial damage and oxidative stress in renal tubular cells. Literature review found a 29-year average age with no gender predominance and a mortality of 13%. Currently, no fully effective strategy exists for preventing ifosfamide-induced nephrotoxicity; however, hydration, forced diuresis, and other interventions are employed to limit renal damage. Long-term renal function monitoring is essential for patients treated with ifosfamide. EXPERT OPINION: Ifosfamide remains essential in neoplasm treatment, but nephrotoxicity, often compounded by coadministered drugs, poses diagnostic challenges. Preventive strategies are lacking, necessitating further research. Identifying timely risk factors can mitigate renal damage, and a multidisciplinary approach manages established nephrotoxicity. Emerging therapies may reduce ifosfamide induced nephrotoxicity.

Ifosfamide is a type of chemotherapy used to treat different types of cancers. However, one of its main side effects is kidney damage. Researchers reviewed 100 articles from medical databases to understand how ifosfamide affects the kidneys. The kidney damage is caused by harmful substances produced when ifosfamide is broken down in the body. These substances can harm the cells in the kidneys. Studies have shown that 13% of the patients treated with ifosfamide can die. Currently, there is no perfect way to prevent kidney damage from ifosfamide, but doctors try to protect the kidneys by giving patients plenty of fluids and using other treatments, so it's important for patients who receive ifosfamide to have their kidney function checked regularly. Although ifosfamide is effective against cancer, its potential kidney side effects should be carefully considered by doctors when deciding on the best treatment for each patient.

Cushing disease in pediatrics: an update.

Cushing disease (CD) is the main cause of endogenous Cushing syndrome (CS) and is produced by an adrenocorticotropic hormone (ACTH)-producing pituitary adenoma. Its relevance in pediatrics is due to the retardation of both growth and developmental processes because of hypercortisolism. In childhood, the main features of CS are facial changes, rapid or exaggerated weight gain, hirsutism, virilization, and acne. Endogenous hypercortisolism should be established after exogenous CS has been ruled out based on 24-hour urinary free cortisol, midnight serum or salivary cortisol, and dexamethasone suppression test; after that, ACTH dependence should be established. The diagnosis should be confirmed by pathology. The goal of treatment is to normalize cortisol level and reverse the signs and symptoms. Treatment options include surgery, medication, radiotherapy, or combined therapy. CD represents a challenge for physicians owing to its multiple associated conditions involving growth and pubertal development; thus, it is important to achieve an early diagnosis and treatment in order to control hypercortisolism and improve the prognosis. Its rarity in pediatric patients has led physicians to have limited experience in its management. The objective of this narrative review is to summarize the current knowledge about the pathophysiology, diagnosis, and treatment of CD in the pediatric population.

Late Diagnosis of Partial Androgen Insensitivity Syndrome in a Peruvian Child.

Disorders of sexual differentiation are congenital pathologies characterized by atypical development of genetic, gonadal, or phenotypic sex. These are caused by the alteration of any primordial phases of sexual development and may be evident at birth or in the later stage of life. Here, we present the case of a nine-year-old Peruvian school patient who has female gender assigned at birth, has no contributory antecedents and was found to have clitoromegaly and hypospadia on physical examination. In the blood tests, anti-Müllerian hormone and testosterone were found, and 46 XY karyotype and sex-determining region Y (SRY) genes were present. On abdominal ultrasound, testicles were found in the inguinal canals. The human chorionic gonadotropin (HCG) stimulation test was conducted, which allowed us to rule out defects in testosterone biosynthesis and enzyme defects in dihydrotestosterone production; the main suspected diagnosis was partial androgen insensitivity syndrome (PAIS). A multidisciplinary medical meeting was held, accepting the patient's desire to opt for the male gender, after acceptance by the parents. Thus, the patient underwent bilateral orchidopexy and genitoplasty. He is currently receiving therapy with testosterone, with an adequate response to the treatment and the molecular study confirmed the androgen-receptor gene mutation. In conclusion, we highlight the importance of a timely multidisciplinary diagnosis and management of disorders of sexual differentiation to avoid premature gender assignment and major social and family repercussions that it implies.

Familial Chylomicronemia Syndrome-Induced Acute Necrotizing Pancreatitis during Pregnancy.

Acute pancreatitis is a rare condition in pregnancy, associated with a high mortality rate. Hypertriglyceridemia represents its second most common cause. We present the case of a 38-year-old woman in the 24th week of gestation with a history of hypertriglyceridemia and recurrent episodes of pancreatitis. She was admitted to our hospital with acute pancreatitis due to severe hypertriglyceridemia. She was stabilized and treated with fibrates. Despite her favorable clinical course, she developed a second episode of acute pancreatitis complicated by multi-organ dysfunction and pancreatic necrosis, requiring a necrosectomy. The pregnancy was ended by cesarean section, after which three plasmapheresis sessions were performed. She is currently asymptomatic with stable triglyceride levels. Acute pancreatitis due to hypertriglyceridemia represents a diagnostic and therapeutic challenge in pregnant women, associated with serious maternal and fetal complications. When primary hypertriglyceridemia is suspected, such as familial chylomicronemia syndrome, the most important objective is preventing the onset of pancreatitis.

Bilateral Neonatal Adrenal Hemorrhage Associated With Severe Maternal COVID-19 Infection.

Adrenal hemorrhage is the most common cause of adrenal mass in newborns. We present a case of a full-term male, born by cesarean section due to acute fetal distress from a mother with severe coronavirus disease 2019 (COVID-19) infection. He was diagnosed with hypoxic-ischemic encephalopathy, multifactorial shock, and early neonatal sepsis. On the seventh day of hospitalization, hemoglobin dropped and thus blood transfusion was required, and abdominal ultrasound showed bilateral adrenal hemorrhage. He developed relative adrenal insufficiency without either hemodynamic instability or electrolyte imbalances. The use of parenteral corticosteroids was not required. Follow-up ultrasonography and adrenal axis laboratory examination revealed complete resolution of adrenal hemorrhage. Neonatal adrenal hemorrhage has a wide variety of clinical manifestations. Ultrasound is preferred for both initial screening and follow-up evaluation. Adrenal insufficiency occurs rarely in neonatal adrenal hemorrhage. Treatment is usually conservative. We emphasize the importance of a timely diagnosis and clinical follow-up of adrenal hemorrhage in neonates with fetal distress born from mothers with severe COVID-19.

Factores de riesgo y displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer / Risk factors and bronchopulmonary dysplasia in very low weight premature infants

Introducción: La displasia broncopulmonar es la secuela más común relacionada con los recién nacidos prematuros de muy bajo peso al nacer, derivada de la inmadurez pulmonar y en algunos casos del tratamiento. Objetivo: Identificar los factores de riesgo maternos y neonatales asociados a displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer. Métodos: La muestra estuvo conformada por 205 recién nacidos prematuros de muy bajo peso al nacer en el Hospital Belén de Trujillo, durante el período 2008-2015. El grupo de casos y el de controles fueron 41 pacientes con diagnóstico de displasia broncopulmonar y 164 pacientes sin diagnóstico de este trastorno respiratorio y que se ajustaran a los criterios de exclusión. Resultados: Los factores de riesgo asociados a displasia broncopulmonar fueron dos o más episodios de sepsis tardía (OR= 5,12; IC95 por ciento: 1,87-14,06), la prematuridad extrema (OR= 4,86; IC95 por ciento: 1,71-13,80), el peso extremadamente bajo al nacer (OR= 2,72; IC95 por ciento: 0,93- 7,94) y la reanimación neonatal (OR= 2,28; IC95 por ciento: 0,89-5,87). Conclusiones: La prematuridad extrema y dos episodios o más de sepsis tardía fueron los factores de riesgo que más se relacionan con la aparición de displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer(AU)

Introduction: Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight premature infants, and it is derived from pulmonary immaturity and in some cases from treatment. Objective: To identify maternal and neonatal risk factors associated with bronchopulmonary dysplasia in very low birth weight premature infants. Methods: The sample was composed of 205 very low birth weight premature infants at Belén of Trujillo Hospital during the period 2008-2015. The group of cases and controls were 41 patients with diagnosis of bronchopulmonary dysplasia and 164 patients with no diagnosis of this respiratory disorder, respectively, and that both groups adjusted with exclusion criteria. Results: Risk factors associated with bronchopulmonary dysplasia were 2 or more episodes of late onset sepsis (OR=5.12; IC95 percent: 1,87-14,06), extreme prematurity (OR= 4.86; IC95 percent: 1.7-13.80), extremely low birth weight (OR= 2.72; IC95 percent: 0.9-7.94) and neonatal resuscitation (OR= 2.28; IC95 percent: 0.89-5.87). Conclusions: Extreme prematurity and 2 or more episodes of late onset sepsis were the most associated risk factors to the onset of bronchopulmonary dysplasia in very low birth weight premature infants(AU)

Factores de riesgo y displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer / Risk factors and bronchopulmonary dysplasia in very low weight premature infants

Introducción: La displasia broncopulmonar es la secuela más común relacionada con los recién nacidos prematuros de muy bajo peso al nacer, derivada de la inmadurez pulmonar y en algunos casos del tratamiento. Objetivo: Identificar los factores de riesgo maternos y neonatales asociados a displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer. Métodos: La muestra estuvo conformada por 205 recién nacidos prematuros de muy bajo peso al nacer en el Hospital Belén de Trujillo, durante el período 2008-2015. El grupo de casos y el de controles fueron 41 pacientes con diagnóstico de displasia broncopulmonar y 164 pacientes sin diagnóstico de este trastorno respiratorio y que se ajustaran a los criterios de exclusión. Resultados: Los factores de riesgo asociados a displasia broncopulmonar fueron dos o más episodios de sepsis tardía (OR= 5,12; IC95 por ciento: 1,87-14,06), la prematuridad extrema (OR= 4,86; IC95 por ciento: 1,71-13,80), el peso extremadamente bajo al nacer (OR= 2,72; IC95 por ciento: 0,93- 7,94) y la reanimación neonatal (OR= 2,28; IC95 por ciento: 0,89-5,87). Conclusiones: La prematuridad extrema y dos episodios o más de sepsis tardía fueron los factores de riesgo que más se relacionan con la aparición de displasia broncopulmonar en recién nacidos prematuros de muy bajo peso al nacer(AU)

Introduction: Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight premature infants, and it is derived from pulmonary immaturity and in some cases from treatment. Objective: To identify maternal and neonatal risk factors associated with bronchopulmonary dysplasia in very low birth weight premature infants. Methods: The sample was composed of 205 very low birth weight premature infants at Belén of Trujillo Hospital during the period 2008-2015. The group of cases and controls were 41 patients with diagnosis of bronchopulmonary dysplasia and 164 patients with no diagnosis of this respiratory disorder, respectively, and that both groups adjusted with exclusion criteria. Results: Risk factors associated with bronchopulmonary dysplasia were 2 or more episodes of late onset sepsis (OR=5.12; IC95 percent: 1,87-14,06), extreme prematurity (OR= 4.86; IC95 percent: 1.7-13.80), extremely low birth weight (OR= 2.72; IC95 percent: 0.9-7.94) and neonatal resuscitation (OR= 2.28; IC95 percent: 0.89-5.87). Conclusions: Extreme prematurity and 2 or more episodes of late onset sepsis were the most associated risk factors to the onset of bronchopulmonary dysplasia in very low birth weight premature infants(AU)

Factores de riesgo materno asociados al nacimiento de recién nacidos prematuros en el "Hospital Víctor Ramos Guardia" de Huaraz / Maternal risk factors associated to the premature newborn birth at Victor Ramos Guardia Hospital in Huaraz

El presente trabajo se realizó en el Hospital "Víctor Ramos Guardia" Huaraz, de enero del 2000 a diciembre del 2002, donde se desarrolló en estudio descriptivo, retrospectivo, casos y controles, con el objetivo de determinar mediante el enfoque de riesgo los factores maternos relacionados con la prematuridad. Se revisó 5 125 historias clínicas de recién nacidos, quedando conformado nuestro estudio por 4925 recién nacidos, donde se encontró 372 prematuros. Mediante el método estadístico se captó como muestra al 100% de los casos y al 100% de los controles, situación que nos brindó la máxima confiabilidad y el mínimo error de muestreo. Se encontró que los factores de riesgo maternos que presentaron mayor fuerza de asociación (OR>1) y una estadística significativa (p 12 h (87,59), embarazo gemelar (126,87). Se concluyó que los factores de riesgo maternos están fuertemente asociados al nacimiento de recién nacidos prematuros, ampliando la proporción de esta población.

The present work was carried out the "Victor Ramos Guardia" Hospital - Huaraz, of January of the 2000 to December of the 2002, where a descriptive and retrospective study, cases and controls; were done determine the maternal factors related to the prematurity, through the focus of risk. Were examine 5 125 clinical histories of newborn, being conformed our study by 4925 newborn, where 372 newborn premature were found. Through statistical method a sample of cases at 100% and at 100% of controls, which gave us a maximun self confidence and a minimun sampling error. The maternal risk factors, which presented a major risk (OR>1) and meaningful statiscicly (p 12 h (87,59) , pregnancy twin (126,87). We concluded that the maternal risk factors are strongly associated to the premature newborn birth, increasing the population proportion.

Eficacia y eficiencia clínica del Nitrato de Plata comparado con la tetraciclina en la profilaxis de la oftalmia neonatal / Efficacy and clinical efficiency of the nitrate of silver compared with the tetracycline in the prevention of the ophtalmology neonatal

El propósito del presente estudio clínico controlado a simple ciego fue conocer la eficacia y eficiencia del nitrato de plata comparado con la tetraciclina en las profilaxis de la oftalmía neonatal. Doscientos veinticuatro recién nacidos de parto vaginal, con Apgar igual o mayor de 7 al minuto y que no presentaron factores de riesgo para sepsis fueron asignados al azar a 2 grupos de tratamiento: el grupo A recibió nitrato de plata al 1 por ciento en solución 1 gota en cada saco conjuntival, dosis única de frasco gotero, el cuál luego fue descartado; el grupo B recibió tetraciclina oftálmica al 1 por ciento en ungüento 1/4 de pulgada en cada saco conjuntival, dosis única de tubo multidosis, el cuál luego fue descartado. Ambos grupos recibieron la profilaxis durante los 30 primeros minutos de edad. Ambos grupos fueron comparables en cuanto a las siguientes características perinatales: control prenatal, sexo, edad gestacional, peso al nacimiento y Apgar al 1´y a los 5´ (p > 0.05). La conjuntivitis química como efecto indeseable, se presentó 32.14 por ciento en el grupo A (p 0.05). Al evaluar el costo beneficio el nitrato de plata tuvo menor costo por neonato que la tetraciclina. Se concluye que el nitrato de plata al 1 por ciento y la tetraciclina oftálmica al 1 por ciento tienen la misma eficacia en la profilaxis de la oftalmología neonatal; además el nitrato de plata es tan eficiente como la tetraciclina en relación al menor costo igual beneficio: Recomendamos volver a utilizar el nitrato de plata al 1 por ciento en la profilxis de la oftalmía neonatal teniendo en cuenta que la población con escasos recursos económicos es la que acude con mayor frecuencia al hospital.

Operación cesárea: frecuencia, indicaciones y morbimortalidad materna y perinatal. Estudio retrospectivo / Cesarean section: frecuency, indications and maternal and perinatal morbidity and mortality

Entre noviembre 1991 y octubre 1992, en el HospitalBelén se estudió 643 mujeres cesareadas con el propósito de determinar la frecuencia, indicaciones y morbimortalidad materna y perinatal de la intervención cesárea, la que representó el 16,6 por ciento de los partos. Las indicaciones más frecuentes fueron la cesárea repetida (32,8 por ciento), desproporción céfalo-pélvica (24,6 por ciento), presentación podálica (10,7 por ciento) e hipertensión inducida por el embarazo (10,4 por ciento). Treintainueve madres (6,06 por ciento) presentaron morbilidad, incluyendo endometritis en 15 casos, anemia en 11 e infección de herida operatoria en 10. Una madre falleció por shock hipovolémico debido a placenta previa. Padecieron morbilidad 446 neonatos (71,2 por ciento) quienes portaban más de una patología, incluyendo infecciones en 315 (70,6 por ciento), asfixia en 105 (23,5 por ciento) e ictericia en 82 (18,3 por ciento). Fallecieron 21 casos intrautero y 20 en la etapa neonatal. De los decesos neonatales, 15 tuvieron asfixia, 13 sindrome de insuficiencia respiratoria idiopática y 12 cuadros infecciosos. La tasa de mortalidad perinatal fue 52,9 por 1000 nacidos vivos. Un adecuado manejo del parto disminuye las cifras de cesareas y de morbimortalidad materna perinatal.

Six hundred forty three women who had a cesarean done at Belen´s Hospital from November 1991 to October 1992 were studied to determine frequency, indications and maternal and perinatal morbidity and mortality. Incidence was 16,6% of all deliveries. Most frequent indications were repeat cesarean section (32,8%), cephalopelvic disproportion (24,5%), breech presentation (10,7%) and pregnancy induced hypertension (10,4%). Thirty nine mother (6,06%) presented morbidity: endometritis in 15 cases, anemia in 11 and abdominal wall infection in 10. One mother died from hypovolemic shock caused by placenta previa. Morbidity in neonates (71,2%) consisted in more than one pathology. Infections ocurred in 315 newborn infants (70,6%), asphyxia in 105 (23,5%) and ictericia in 82 (18,3%). Twenty-one infants died in uterus and 20 newborns died. Causes of neonatal deaths were asphyxia in 15, acute rapiratory distress in 13 and sepsis in 12. Perinatal mortality rate was 52,9% x 1000 l.b. An adequate deliveg management decrease the incidence of maternal and perinatal morbidity and mortality of cesarean section.

Morbimortalidad neonatal en la cesárea / Neonatal morbimortality in cesarean section

Se revisaron retrospectivmaente 382 historias clínicas del servicio de Maternidad, Dpto Materno Infantil del H. C. N. IPSS - Chiclayo, de recién nacidos de parto por operación cesárea y madres, ocurridos entre el 1° de junio de 1983 y el 30 de junio de 1984. Los objetivos fueron establecer la incidencia y características de la morbimortalidad neonatal en recién nacidos por cesárea. La incidencia hospitalaria de los partos por operación cesárea constituyen el 17.9 por ciento, la edad materna en el mayor porcentaje (32.4 por ciento) oscila entre los 26 y 30 años, siendo mútiparas el 56.8 por ciento, tuviern control prenatal el 69.1 por ciento. La edad gestacional fue a término y adecuados para su edad gestacional con peso mayor de 2.500 grs. en 88.7 por ciento, presentaron algún grado de hipoxia al minuto el 16 por ciento, a los 5 el 5.2 por ciento; el 58.2 por ciento presentaron alguna patología durante el período neonatal con tasa de morbilidad 10.2 x 1,000 N.V., corresponde a las ictericias 43.1 por ciento infecciones 38.5 por ciento. Fallecieron el 1.6 por ciento durante el período neonatal temprano siendo la causa principal SIRI y síndrome de gran aspiración.