Case Report of 11 Years of Severe Malabsorption, Muscular Atrophy, Seizures, and Immunodeficiency Resolved After Proximal Intercessory Prayer.

We present the case of 11 years of severe malabsorption, muscular atrophy, seizures, and immunodeficiency resolved after proximal intercessory prayer (PIP). A male infant suffered from severe abdominal pain and impaired development with the introduction of solid food at age five months. The patient had previously appeared healthy, having been born to term and breastfed. Neocate and total parenteral nutrition (TPN) were prescribed, and the former was removed due to abdominal pain and diarrhea. Ultimately, the patient became completely dependent on TPN. It was concluded that he suffered from chronic, idiopathic, severe malabsorption. Development of neutropenia, hypogamma-globulinemia, and hypotonia was recorded. Medical records document atrophy and progressive deterioration of muscular symptoms. At five years of age, frontal lobe epilepsy was detected. Over the course of the disease, several genetic tests were performed. Doctors tried unsuccessfully to diagnose an underlying condition, with various mitochondriopathies and Shwachman-Diamond syndrome suggested as possible causes, but no prognosis of recovery was given. Eleven years following the initial presentation of symptoms, proximal intercessory prayer (PIP) was administered in a single session. The patient reported no unusual sensations during prayer. However, oral feedings were immediately tolerated without discomfort from that time onward. Post-PIP medical records indicate discontinuation of TPN, seizures, and seizure medications. Progressive improvement in the hematological disorders, BMI, and muscular symptoms was also observed. The present case report describes a novel association between PIP and the lasting resolution of multiple symptoms likely related to a genetic disorder. The results inform ongoing discussions about faith-based practices in health care and suggest the need for additional studies of PIP on health outcomes.

[Chronic diarrhoea: when is it celiac disease and when not?] / Chronische Durchfälle: Wann ist es eine Zöliakie und wann nicht?

Patients who come to clinical consultation for chronic diarrhoea (i.e., diarrhoea lasting for more than four weeks) may suffer from a wide range of clinical conditions. The possible diagnoses range from a misunderstanding of what can be considered normal and what pathological in terms of daily bowel movements, to a severe malabsorption syndrome. Since the list of possible causes of chronic diarrhoea can be puzzling, the physician's approach needs to be systematic and structured in order to allow the correct diagnosis and treatment. This article proposes an algorithm for the diagnosis of chronic diarrhoea and discusses in detail the key clinical aspects of celiac disease, which is considered a paradigmatic disease as regards chronic malabsorptive diarrhoea.

Pathophysiology and management of enteric hyperoxaluria.

Enteric hyperoxaluria is a metabolic disorder resulting from conditions associated with fatty acid malabsorption and characterized by an increased urinary output of oxalate. Oxalate is excessively absorbed in the gut and then excreted in urine where it forms calcium oxalate crystals, inducing kidney stones formation and crystalline nephropathies. Enteric hyperoxaluria is probably underdiagnosed and may silently damage kidney function of patients affected by bowel diseases. Moreover, the prevalence of enteric hyperoxaluria has increased because of the development of bariatric surgical procedures. Therapeutic options are based on the treatment of the underlying disease, limitation of oxalate intakes, increase in calcium salts intakes but also increase in urine volume and correction of hypocitraturia. There are few data regarding the natural evolution of kidney stone events and chronic kidney disease in these patients, and there is a need for new treatments limiting kidney injury by calcium oxalate crystallization.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.

Pancreatitis crónica: nuevas terapias / Chronic pancreatitis: new therapies

Chronic pancreatitis occurs by the prolonged inflammation of pancreatic tissue that induces the irreversible destruction of the organ, leading to a global pancreatic insufficiency. The most common manifestations are abdominal pain, diarrhea, malabsorption, and possibly diabetes mellitus. Chronic pancreatitis treatment includes dietary restrictions, enzymatic supplementation, vitamins, and endoscopic or surgical methods depending on the degree of ductal involvement. In addition to the known therapies, new therapies are under development and research.

La pancreatitis crónica se desarrolla por la inflamación prolongada del tejido pancreático que induce la destrucción irreversible del órgano, llevando a una insuficiencia pancreática global. Las manifestaciones más frecuentes son dolor abdominal, diarrea, malabsorción y eventualmente diabetes mellitus. El tratamiento en pancreatitis crónica incluye restricciones dietarias, suplementación enzimática, vitamínica, y métodos endoscópicos o quirúrgicos, dependiendo del grado de compromiso ductal. Además de lo descrito, están en desarrollo y experimentación nuevas terapias.

Síndrome de malabsorción intestinal provocado por Strongyloides stercoralis / Intestinal malabsorption syndrome cause by Strongyloides stercoralis

Son varios los cuadros clínicos producidos por el Strongyloides stercoralis, desde infestación subclínica hasta una hiperinfestación que puede ser mortal. El aparato digestivo es el asiento más importante de la infestación, el duodeno y el yeyuno son los más gravemente afectados y la magnitud de trastorno va desde leve edema de la mucosa hasta la infrecuente enteritis hemorrágica mortal. Se presenta un paciente de 30 años de edad que ingresa a Terapia Intensiva con diagnóstico clínico, electromiográfico y por líquido de síndrome de Guillain Barré, que presentara desde su ingreso diarreas profusas; observándose en un exámen parasitológico de materia fecal, abundantes larvas de Strongyloides stercoralis. Recibió tratamiento específico para el mismo, aunque incompleto. Varios estudios confirmaron la presencia de Síndrome de Malabsorción, que obligó el uso prolongado de alimentación parenteral total. En su evolución presentó complicaciones infecciosas, desnutrición calórica protéica severa y un cuadro peritoneal agudo que obligó a una laparotomía exploradora de urgencia, hallándose extensa necrosis ilial de aproximadamente 1,2 metros extensión. La biopsia demostró enteritis aguda hemorágica parasitaria, con presencia de abundantes larvas y vermes adultos de Strongyloides stercolaris...

Síndrome de intestino corto

El síndrome de intestino corto (SIC) es definido como malabsorción, pérdida de líquidos y electrolitos y malnutrición debidos a resección masiva de intestino delgado. Tanto como la mitad del intestino delgado puede perderse sin problemas significativos a largo plazo para mantener una nutrición normal, con tal, que sean conservados el duodeno, íleon distal y la válvula ileocecal (VIC). En contraste, resecciones ileales distales que incluyen la VIC pueden inducir diarrea severa aunque sólo el 25 por ciento del intestino delgado haya sido resecado. La resección del más del 75 por ciento del intestino delgado con la preservación de la VIC invariablemente produce malabsorción inicial intratable y diarrea (1). Hoy en los países desarrollados se ha informado de niños con SIC que sobreviven con tan poco 25 cm de intestino delgado sin VIC y 11 cm de intestino delgado con la VIC intacta (2). Varios factores influyen en la severidad del SIC (tabla 1).

Suplementación de DL-Ó-tocoferol acetato oral en niños con colestasis crónica y déficit de vitamina E / Supplement of Oral DL-Ó-Tocopherol Acetate in children with chronic cholestasis and vitamin E deficit

Objetivo. Determinar la dosis oral suplementaria de dl-Ó-tocoferol acetato para mantener niveles séricos de Ó-tocoferol normales en niños con colestasis crónicas y déficit de vitamina E. Antecedentes. La malabsorción y deficiencia de vitamina E en niños con colestasis crónica se presenta en un 60-70 por ciento, causando un síndrome de degeneración neurológica progresiva entre 18 y 24 meses si no se corrige. La pronta suplementación con vitamina E determina la prevención e irreversibilidad de dicho déficit. Método. Realizamos un estudio prospectivo, longitudinal y comparativo de 60 niños divididos en tres grupos, con déficit de vitamina E y colestasis crónica. Luego de una evaluación inicial y por 15 días, cada grupo recibió suplementación oral con 100 UI, 200 UI y 400 UI diarias de dl-Ó-tocoferol acetato, respectivamente. Fueron monitorizados los niveles séricos de Ó-tocoferol, la función neurológica y los parámetros bioquímicos durante la suplementación. Resultados. Ninguna de las dosis suplementarias orales de dl-Ó-tocoferol acetato administradas por 15 días normalizaron los niveles séricos de Ó-tocoferol (p>0.06). La función neurológica, que no encontraba alterada al inicio del estudio en ninguno de los pacientes, permaneció estable luego de los 15 días, a dosis de 100 UI, 200 UI y 400 UI, a pesar de ser seguro, no mantuvo los niveles séricos normales de Ó-tocoferol en niños con colestasis crónica y déficit de vitamina E

Má-digestäo e má-absorçäo de carboidratos na infância / Poor carbohidrate digestion and malabsorption in childhood

É apresentada uma extensa revisao abordando aspectos gerais, da fisiopatologia, do diagnóstico e do tratamento dos problemas clínicos decorrentes de alteraçoes na digestao e absorçao dos carboidratos.

Sindrome de ma-absorcao: diagnostico e tratamento / Malabsorption syndrome: diagnosis and treatment

O comportamento variado das manifestacoes clinicas e dosachados laboratoriais da sindrome disabsortiva, em decorrencia da multiplicidade de sistemas e orgaos comprometidos nas diferentes patologias, que ocasionam umaperda nutricional enterica, nao deve desencorajar o medico generalista, a pesquisa de alguns dados que poderao informa-lo da existencia real da disabsorcao e ate mesmo da doenca responsavel pelo seu aparecimento.

Má-absorçäo de origem pancreática / Malabsorption of pancreatic origin

Expöem-se os mecanismos fisiológicos pelos quais o pâncreas regula a digestäo. Analisam-se as principais causas de insuficiência pancreática exócrina e a sua fisiopatologia, e propöem-se as medidas terapêuticas de base, dos sintomas e das complicaçöes, e da insuficiência pancreática exócrina e endócrina