Fragile X Syndrome in children.

Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

Fragile X Syndrome in children

Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

Perforated gastric ulcer after unhealthy decisions in a patient with an intragastric balloon, a hangover you will regret.

BACKGROUND: Perforated gastric ulcers are life-threatening surgical emergencies that need early diagnosis and treatment to overcome severe complications. With the rise of obesity in recent years, intragastric balloons have arisen as a "safe" strategy; however, in medicine, no treatment is risk-free. Nausea, pain, vomiting, and more severe complications like perforation, ulceration, and death can occur. CASE PRESENTATION: We present the case of a 28-year-old man with obesity; treatment with an intragastric balloon was initiated with good results at the beginning of his treatment. However, he neglected his treatment over time and made unhealthy choices, leading to a severe complication. However, thanks to prompt surgical treatment, he made a full recovery. COMPLICATIONS: Gastric perforation following an intragastric balloon is a severe and potentially life-threatening complication that an experienced multidisciplinary team must treat promptly and, more importantly, prevent.

Description of an Ultrasound-Guided Erector Spinae Plane Block and Comparison to a Blind Proximal Paravertebral Nerve Block in Cows: A Cadaveric Study.

The proximal paravertebral nerve block is commonly used to provide anaesthesia to the flank during standing surgical procedures in adult cattle. It has been reported that additional anaesthetic infiltration may be necessary to provide complete anaesthesia. In humans as well as animal species, another technique-the ultrasound (US)-guided erector spinae plane block (ESPB)-has been described. The goal of the present study was to develop and investigate an US-guided ESPB in comparison to a blind proximal paravertebral nerve block (PPNB) in cow cadavers. In 10 cadaver specimens, injections of methylene blue-lidocaine (1:1) were performed at the level of T13, L1 and L2 vertebras, on one side doing an ESPB block and, on the other side, a PPNB. Five cadavers were injected with high (40 mL per injection for PPNB and 20 mL for ESPB) and five with low (20 and 15 mL, respectively) volumes of injectate. For the ESPB, the ultrasound probe was oriented craniocaudally, and the ventral-cranial aspect of the articular processes (T13, L1 and L2) was targeted for injection. The dye spreading was evaluated by dissection. The landmarks for US-guided injection were easily visualized; however, injections were accidentally performed at T12, T13 and L1. Nevertheless, L2 was stained in 60% of ESPBs. Epidural spreading was observed with both techniques and all volumes. Viscera puncture was reported in two PPNBs. The ESPB resulted in similar nerve staining compared to the PPNB while using a lower volume of injectate. Even better staining is expected with a T13-L2 instead of a T12-L1 ESPB approach. Further studies are warranted to evaluate the clinical efficacy.

Alterations to the broad-spectrum formin inhibitor SMIFH2 modulate potency but not specificity.

SMIFH2 is a small molecule inhibitor of the formin family of cytoskeletal regulators that was originally identified in a screen for suppression of actin polymerization induced by the mouse formin Diaphanous 1 (mDia1). Despite widespread use of this compound, it is unknown whether SMIFH2 inhibits all human formins. Additionally, the nature of protein/inhibitor interactions remains elusive. We assayed SMIFH2 against human formins representing six of the seven mammalian classes and found inhibitory activity against all formins tested. We synthesized a panel of SMIFH2 derivatives and found that, while many alterations disrupt SMIFH2 activity, substitution of an electron-donating methoxy group in place of the bromine along with halogenation of the furan ring increases potency by approximately five-fold. Similar to SMIFH2, the active derivatives are also pan-inhibitors for the formins tested. This result suggests that while potency can be improved, the goal of distinguishing between highly conserved FH2 domains may not be achievable using the SMIFH2 scaffold.

Etiology and Risk Factors for Admission to the Pediatric Intensive Care Unit in Children With Encephalitis in a Developing Country.

OBJECTIVE: To describe a cohort of pediatric patients with encephalitis and their risk factors for admission to the pediatric intensive care unit (PICU). STUDY DESIGN: Children (<18 years old), with encephalitis evaluated by conventional microbiology and syndromic, multiplex test in cerebrospinal fluid (CSF) between July 2017 and July 2020, were recruited from 14 hospitals that comprise the Colombian Network of Encephalitis in Pediatrics. Multivariate analyses were used to evaluate risk factors associated with the need for PICU admission. RESULTS: Two hundred two children were included, of which 134 (66.3%) were male. The median age was 23 months (IQR 5.7-73.2). The main etiologies were bacteria (n = 55, 27%), unspecified viral encephalitis (n = 44, 22%) and enteroviruses (n = 27, 13%), with variations according to age group. Seventy-eight patients (38.6%) required management in the PICU. In multivariate analysis, factors associated with admission to the PICU were the presence of generalized seizures (OR 2.73; 95% CI: 1.82-4.11), status epilepticus (OR 3.28; 95% CI: 2.32-4.62) and low leukocyte counts in the CSF (OR 2.86; 95% CI: 1.47-5.57). Compared with enterovirus, bacterial etiology (OR 7.50; 95% CI: 1.0-56.72), herpes simplex encephalitis (OR 11.81; 95% CI: 1.44-96.64), autoimmune encephalitis (OR 22.55; 95% CI: 3.68-138.16) and other viral infections (OR 5.83; 95% CI: 1.09-31.20) increased the risk of PICU admission. CONCLUSIONS: Data from this national collaborative network of pediatric patients with encephalitis allow early identification of children at risk of needing advanced care and can guide the risk stratification of admission to the PICU.

MRI findings on extrapulmonary tuberculosis in a pediatric patient / [Hallazgos de tuberculosis extrapulmonar en imágenes de resonancia magnética en una paciente pediátrica].

Pulmonary tuberculosis is the most common in children and its extrapulmonary manifestations are present in 30% to 40% of cases. We present the case of an indigenous girl with disseminated tuberculosis: pulmonary, brain, medullary, and musculoskeletal with substantial neurodevelopmental sequelae. This case exemplifies the spectrum of pediatric extrapulmonary tuberculosis in endemic developing countries. Furthermore, it shows the severity of highly disabling neurological complications and stresses the importance of radiological imaging in guiding diagnostic suspicion of extrapulmonary involvement.

La tuberculosis pulmonar es la más común en niños y su forma extrapulmonar corresponde aproximadamente a 30 a 40 % de los casos. Se presenta el caso de una niña indígena con tuberculosis diseminada: pulmonar, cerebral, medular y musculoesquelética, con importantes secuelas en el neurodesarrollo. Este caso ilustra el espectro de la tuberculosis extrapulmonar pediátrica en países endémicos en desarrollo. Además, evidencia la gravedad de las complicaciones neurológicas causantes de grave discapacidad y resalta el valor de las imágenes radiológicas para orientar la sospecha diagnóstica de compromiso extrapulmonar.

Hallazgos de tuberculosis extrapulmonar en imágenes de resonancia magnética en una paciente pediátrica / MRI findings on extrapulmonary tuberculosis in a pediatric patient

Resumen | La tuberculosis pulmonar es la más común en niños y su forma extrapulmonar corresponde aproximadamente a 30 a 40 % de los casos. Se presenta el caso de una niña indígena con tuberculosis diseminada: pulmonar, cerebral, medular y musculoesquelética, con importantes secuelas en el neurodesarrollo. Este caso ilustra el espectro de la tuberculosis extrapulmonar pediátrica en países endémicos en desarrollo. Además, evidencia la gravedad de las complicaciones neurológicas causantes de grave discapacidad y resalta el valor de las imágenes radiológicas para orientar la sospecha diagnóstica de compromiso extrapulmonar.

Abstract | Pulmonary tuberculosis is the most common in children and its extrapulmonary manifestations are present in 30% to 40% of cases. We present the case of an indigenous girl with disseminated tuberculosis: pulmonary, brain, medullary, and musculoskeletal with substantial neurodevelopmental sequelae. This case exemplifies the spectrum of pediatric extrapulmonary tuberculosis in endemic developing countries. Furthermore, it shows the severity of highly disabling neurological complications and stresses the importance of radiological imaging in guiding diagnostic suspicion of extrapulmonary involvement.

Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.

BACKGROUND: We determined the frequency of genetic polymorphisms in three anti-TB drug metabolic proteins previously reported: N-acetyltransferase 2 (NAT2), cytochrome P450 2E1 (CYP2E1), and arylacetamide deacetylase (AADAC) within a Peruvian population in a cohort of TB patients. METHODS: We genotyped SNPs rs1041983, rs1801280, rs1799929, rs1799930, rs1208, and rs1799931 for NAT2; rs3813867 and rs2031920 for CYP2E1; and rs1803155 for AADAC in 395 participants completed their antituberculosis treatment. RESULTS: Seventy-four percent of the participants are carriers of slow metabolizer genotypes: NAT2*5, NAT2*6, and NAT2*7, which increase the sensitivity of INH at low doses and increase the risk of drug-induced liver injuries. Sixty-four percent are homozygous for the wild-type CYP2E1*1A allele, which could increase the risk of hepatotoxicity. However, 16% had a NAT2 fast metabolizer phenotype which could increase the risk of acquiring resistance to INH, thereby increasing the risk of multidrug-resistant (MDR) or treatment failure. The frequency of rs1803155 (AADAC*2 allele) was higher (99.9%) in Peruvians than in European American, African American, Japanese, and Korean populations. CONCLUSIONS: This high prevalence of slow metabolizers for isoniazid in the Peruvian population should be further studied and considered to help individualize drug regimens, especially in countries with a great genetic diversity like Peru. These data will help the Peruvian National Tuberculosis Control Program develop new strategies for therapies.

Cranial complications of otitis media with paralysis of the contralateral sixth cranial pair in pediatrics / [Complicaciones de la otitis media con parálisis del sexto par craneal contralateral en pediatría].

Otitis media is a frequent infection during childhood. Complications may be present in up to 4 of 100 children including serious neurological complications, particularly in developing countries. We report the case of a 9-year-old girl with no disease history who presented with otitis media, otorrhea, intracranial hypertension syndrome, and paralysis of the VI cranial nerve contralateral to the lesion. A computed tomography scan of the skull and a brain magnetic resonance imaging revealed chronic otomastoiditis, petrous apicitis, and thrombosis of the transverse and sigmoid sinus, the jugular bulb, and the right internal jugular vein. She received antibiotics and surgical treatment. This case shows the spectrum of intra and extracranial complications associated with acute otitis media in the antibiotic era. The physical examination allows early identification of intracranial hypertension with signs such as papilledema and sixth contralateral nerve palsy as an unusual finding.

La otitis media es una infección frecuente en la infancia, la cual puede producir complicaciones, incluidas las neurológicas graves, en cuatro de cada 100 niños en países en desarrollo. Se presenta el caso de una niña de nueve años sin antecedentes de enfermedad que consultó por otitis media derecha, otorrea, síndrome de hipertensión intracraneal y parálisis del VI nervio craneal contralateral a la lesión. La tomografía computarizada de cráneo y la resonancia magnética cerebral revelaron otomastoiditis crónica, apicitis petrosa, y rombosis de los senos transverso y sigmoide, el bulbo yugular y la vena yugular interna derecha. Recibió tratamiento antibiótico y quirúrgico. Este caso refleja el espectro de complicaciones intracraneales y extracraneales asociadas con la otitis media aguda en la era antibiótica. El examen físico permite la detección precoz de la hipertensión intracraneal, con signos como el papiledema y la parálisis del VI par contralateral como hallazgo inusual.

Complicaciones de la otitis media con parálisis del sexto par craneal contralateral en pediatría / Cranial complications of otitis media with paralysis of the contralateral sixth cranial pair in pediatrics

Resumen. La otitis media es una infección frecuente en la infancia, la cual puede producir complicaciones, incluidas las neurológicas graves, en cuatro de cada 100 niños en países en desarrollo. Se presenta el caso de una niña de nueve años sin antecedentes de enfermedad que consultó por otitis media derecha, otorrea, síndrome de hipertensión intracraneal y parálisis del VI nervio craneal contralateral a la lesión. La tomografía computarizada de cráneo y la resonancia magnética cerebral revelaron otomastoiditis crónica, apicitis petrosa, y trombosis de los senos transverso y sigmoide, el bulbo yugular y la vena yugular interna derecha. Recibió tratamiento antibiótico y quirúrgico. Este caso refleja el espectro de complicaciones intracraneales y extracraneales asociadas con la otitis media aguda en la era antibiótica. El examen físico permite la detección precoz de la hipertensión intracraneal, con signos como el papiledema y la parálisis del VI par contralateral como hallazgo inusual.

Abstract. Otitis media is a frequent infection during childhood. Complications may be present in up to 4 of 100 children including serious neurological complications, particularly in developing countries. We report the case of a 9-year-old girl with no disease history who presented with otitis media, otorrhea, intracranial hypertension syndrome, and paralysis of the VI cranial nerve contralateral to the lesion. A computed tomography scan of the skull and a brain magnetic resonance imaging revealed chronic otomastoiditis, petrous apicitis, and thrombosis of the transverse and sigmoid sinus, the jugular bulb, and the right internal jugular vein. She received antibiotics and surgical treatment. This case shows the spectrum of intra and extracranial complications associated with acute otitis media in the antibiotic era. The physical examination allows early identification of intracranial hypertension with signs such as papilledema and sixth contralateral nerve palsy as an unusual finding.

"A hybrid approach for GISTs near the esophagogastric junction, a case report".

INTRODUCTION AND IMPORTANCE: Gastrointestinal stromal tumors are the most frequent mesenchymal tumors of the gastrointestinal tract. Complete resection of GISTs is the only chance of cure for patients. When these tumors are located near the esophagogastric junction, the surgical risk can cause deformity or stenosis in the gastric inlet, leading to higher complications and diminishing their quality of life. In such cases, a more sophisticated and tailored approach should be used. CASE PRESENTATION: We present the case of a 42-year-old female; she presented to our office with a 3-year history of nausea, vomiting and abdominal distension. Two GISTs were located near the EGJ, and with a combined approach we achieved complete resection. On follow-ups, the patient is doing well. CLINICAL DISCUSSION CONCLUSION: When diagnosis is confirmed, surgical resection must be the first choice for GISTs as complete surgical excision is the only permanent cure. The rise of endoscopic surgery has become a valuable tool and a critical element in surgery. Hybrid techniques that combine laparoscopic and endoscopic approaches can improve the patient's outcomes and provide better results.

Risks of Adverse Childhood Outcomes According to Prenatal Time of Exposure to Zika Virus: Assessment in a Cohort Exposed to Zika During an Outbreak in Colombia.

Late gestational exposure to Zika increases the odds of delay in the Bayley-II mental developmental index (MDI) in children with normal baseline neurologic assessments; 9-fold when comparing third and first trimester exposure. Risk of MDI developmental delay increases by 8% for each week of gestational age at time of exposure.

Abdominal tuberculosis in Ecuador, a problem that is still not solved.

BACKGROUND: Tuberculosis (TB) in the gastrointestinal tract or peritoneum is an uncommon condition in clinical practice. Its rarity, combined with its nonspecific presentations, makes this kind of extrapulmonary tuberculosis difficult to diagnose as it can mimic other inflammatory or malignant conditions. Delays in treatment and frequent misdiagnosis can lead to hazardous complications. In countries like Ecuador where the disease is endemic, TB should always be considered in the differential diagnosis of a patients who present with nonspecific abdominal symptoms. In these scenarios, laparoscopy can be an invaluable tool when used with sufficiently high clinical awareness and adequate training. CASE PRESENTATION: We present the case of a 37-year-old female patient from Ecuador with a 1-year history of abdominal pain, nausea, intermittent vomits, night sweats, and weight loss. After clinical evaluation and a laparoscopic intervention, abdominal TB was detected and promptly treated. Antituberculosis chemotherapy was initiated, and the patient successfully recovered. CONCLUSIONS: High clinical awareness is imperative when approaching abdominal TB due to its wide spectrum of clinical symptoms and its rarity. Early detection and prompt treatment are critical to minimize the possibility of hazardous complications.

Incidental finding after laparoscopic gastric sleeve, the value of pathology.

Gastric neuroendocrine tumors (NET) are rare tumors with a broad spectrum of symptoms; in recent years, the number of cases has increased due to the growing number of upper endoscopies. Obesity has become a worldwide epidemic and bariatric surgery one of the most effective therapies to control this illness. As more surgeries are performed, the number of histopathological samples will also increase. Incidental discoveries on these histopathological specimens are difficult situations to encounter as medical plans, prognosis and therapy will have to change accordingly. We present the case of a 43-year-old patient who underwent a laparoscopic gastric sleeve. On pathology, a NET was detected, and additional surgery was required. On follow-ups, the patient is doing well.

Acute cholecystitis and residual choledocholithiasis in a situs inversus patient, successful laparoscopic approach and ERCP a case report from Ecuador.

BACKGROUND: Situs inversus totalis is a rare genetic condition characterized by the transposition of organs to the opposite side of the body, consequently, clinical syndromes show an atypical clinical picture creating a challenge for the surgery team and predisposing to delays in treatment and diagnosis. Laparoscopic cholecystectomy is the gold standard for acute cholecystitis, and in patients with situs inversus, the laparoscopic technique must be modified to accommodate the patient's anatomy. CASE PRESENTATION: We present the case of a 55-year-old male patient without any past medical history, he presented to the emergency room with abdominal pain in his upper left quadrant. After a thorough examination, acute cholecystitis and situs inversus was diagnosed. He underwent a modified laparoscopic cholecystectomy without complications. In his postoperative period, residual choledocholithiasis was identified and ERCP was done. On follow-ups, the patient is doing well. CONCLUSIONS: Although rare and technically demanding, laparoscopic cholecystectomy and ERCP in a patient with situs inversus is feasible. The altered anatomy could lead to complex procedures, therefore proper planning and careful execution of intraoperative techniques are required to treat these patients safely and effectively.

Inclusion of a Clip Inside the Cartridge and Failure of the Stapler When Performing a Laparoscopic Sleeve Gastrectomy.

The growth of the surgical industry and the development of surgical techniques have allowed us to achieve better results for patients. Laparoscopic staplers are a crucial tool in laparoscopic surgery, and despite their proven safety and efficiency, they have been associated with technical and mechanical failures on rare occasions. Adequate knowledge of the surgical instruments is critical to accomplishing optimal results and to adequately treating these rare malfunctions and their consequences. We present a case of a surgical stapler malfunction due to a titanium clip during laparoscopic sleeve gastrectomy. This mechanical failure produced a complication that was adequately resolved, and the patient completely recovered. Our brief communication shows that errors during sleeve gastrectomy can occur, and that precise surgical skills along with a close follow-up are crucial to improve the patient outcome when these rare complications arise.

A bleeding GIST in pandemic times, a cooperative approach to a delayed complication, a case report.

INTRODUCTION: Upper gastrointestinal bleeding is one of the major manifestations of the stomach's gastrointestinal stromal tumors; when gastric GISTs bleed, they are associated with a poor prognosis and must be treated promptly to avoid dangerous complications. A worrisome side effect of the Covid-19 pandemic is the delay in surgical treatment for seriously ill patients, a rise in surgical complications due to delayed care, lack of access to the healthcare system, and patients' hesitancy to seek care due to fear of the virus. In Ecuador, where limitations were present even in the absence of a pandemic, we are yet to fully know the full extent of the damage this pandemic has caused to ourselves and our patients. PRESENTATION OF CASE: We present the case of a 51-year-old female; she presented with upper gastrointestinal bleeding, and a gastric GIST was diagnosed. Due to the size and the symptoms, surgery was planned. Nonetheless, as Ecuador was hit hard by the Covid-19 pandemic to cope with the respiratory patients, surgeries were delayed or canceled. Our patient surgery was delayed for five months until she presented with severe gastrointestinal bleeding that required urgent action and care. Thankfully, she completely recovered. DISCUSSION AND CONCLUSIONS: This case is an example of the many complications we expect due to the pandemic; delay in treatment leads to troublesome complications. In these emergencies, time is of the essence, and surgical services must rise to the challenge; in a particular way, this case also proves that if there are the necessary tools to enhance the patient's recovery, we should hesitate to use them. Complete resection of the gastric GIST in a prompt matter must be done to avoid these potentially deadly complications.