Probability of Remission of the Main Epileptic Syndromes in Childhood

Aim To determine the long-term probability of remission without antiepileptic treatment of common epileptic syndromes and of children without a specific syndromic diagnosis. Patients and methods All children less than 14 years old with 2 or more unprovoked seizures seen at our hospital between June 1, 1994, and March 1, 2011 (n = 680), were included and prospectively followed up until August 15, 2020. Syndromic diagnosis was made retrospectively but blinded to subsequent evolution, employing the data available at 6 months after diagnosis and under predefined operational criteria. Results The Kaplan-Meier estimate of the probability of achieving a remission period of at least 5 years, with neither seizures nor antiepileptic treatment at 14 years was 97% for well-defined childhood epilepsy with centrotemporal spikes, 82% for uncertain childhood epilepsy with centrotemporal spikes, 85% for well-defined Panayiotopoulos syndrome, 88% for uncertain Panayiotopoulos syndrome, 93% for nonfamilial self-limited infantile epilepsy, 100% for familial self-limited infantile epilepsy, 86% for absence epilepsy, 6% for juvenile myoclonic epilepsy, 71% for cryptogenic West syndrome, 72% for patients with no associated neurologic deficits and no specific syndromic diagnosis, 65% for symptomatic West syndrome, and 40% for patients with associated neurologic deficits and no specific syndromic diagnosis. Conclusions The study results highlight the long-term outcomes of the main epileptic syndromes and also of the patients with no syndromic diagnosis.

Siblings with Imperforate anus and aplastic nasal alae: Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a rare genetic entity reported in medical literature resulting from mutations in UBR1 gene, affecting pancreas, craniofacial and urogenital development, causing significant morbidity and mortality. We report a neonate presenting with anorectal malformation requiring surgical intervention at birth, with similar surgeries being performed in two elder siblings. Surviving sibling of the proband neonate also has similar dysmorphic features of absent ala nasi, aplasia cutis of scalp along with pancreatic insufficiency, profound sensorineural hearing loss, pheno-type corresponding to Johanson-Blizzard syndrome. Syndromic diagnosis helps in screening for associated potential issues, which can intervened at early stages.

Crossroad of infection and autoimmunity in acute liver failure: a case report

Background Acute liver failure (ALF) is a syndromic diagnosis, consisting of jaundice, coagulopathy, and any degree of encephalopathy in a patient without pre-existing liver disease within 26 weeks of the onset of symptoms. Autoimmune hepatitis has a wide range of presentations and can rarely present as ALF, which frequently tends to be autoantibody negative. Tropical infections like dengue, malaria, and leptospirosis, which present as mimickers of ALF, always remain a differential diagnosis of ALF and mandate an etiology specific management. In rare cases, such infections themselves act as a trigger for autoimmunity. We report a case of diagnostic crossroads of infection and autoimmunity, presenting as acute liver failure and describe the challenges in management. Case presentation A 25-year-old female presented with a syndromic diagnosis of acute liver failure with possibility of tropical illness-related ALF mimic on account of positive Leptospira serology. After initial improvement, there was a rebound worsening of liver functions which prompted a liver biopsy. Biopsy narrowed the differential to Leptospira-associated hepatitis and severe auto-immune hepatitis. Trial of low dose steroid was given which led to dramatic improvement. Conclusion Tropical infections can present as ALF mimics and can themselves act as triggers for autoimmunity. Distinguishing such cases from de-novo acute severe autoimmune hepatitis is difficult and requires therapeutic brinksmanship. An early trial of steroid is mandated but comes with its own challenges.

Factors Associated With Delay in Cleft Surgery at a Tertiary Children’s Hospital in a Major US Metropolitan City

Objective: To identify factors associated with late cleft repair at a US tertiary children’s hospital. Design: Retrospective study of children with CL/P using Children’s Hospital Los Angeles (CHLA) records. Setting: US tertiary children’s hospital. Patients/Participants: Patients undergoing primary CL or CP repair at CHLA from 2009 to 2018. Main Outcome Measures: Proportion of children who had delayed primary CL repair or CP repair using CHLA and American Cleft Palate-Craniofacial Association (ACPA) guidelines and factors associated with late surgery. Results: In total, 805 patients—503 (62.5%) who had CL repair, 302 (37.5%) CP repair—were included. Using CHLA protocol, 14.3% of patients seeking CL repair had delayed surgery. Delay was significantly associated with female gender, non-Hispanic ethnicity, Spanish primary language, government insurance, bilateral cleft, cleft lip and palate (CLP), and syndromic diagnosis. Using ACPA guidelines, 5.4% had delayed surgery. Female gender and syndromic diagnosis were significantly associated with delay and remained significant after adjustment for confounders in multivariate models. For CP repair, 60.3% of patients had delayed surgery using CHLA protocol. Cleft lip and palate diagnosis, complete cleft, syndromic diagnosis, and longer travel distance were significantly associated with delay. Using ACPA guidelines, 28.5% had delayed surgery; however, significant association with patient variables was not consistently observed. Conclusions: Delay in cleft surgery occurs most often for patients seeking CP repair and is associated with female gender, non-Hispanic ethnicity, Spanish language, government insurance, and bilateral CL, CLP, or syndromic diagnoses. Initiatives should aim to optimize cleft surgery delivery for these subpopulations.

Remote ophthalmology with a smartphone adapter handled by nurses for the diagnosis of eye posterior pole pathologies during the COVID-19 pandemic

Introduction: The use of smartphones to provide specialist ophthalmology services is becoming a more commonly used method to support patients with eye pathologies. During the COVID-19 pandemic, demand for telehealth services such as tele-ophthalmology, is increasing rapidly. Methods: In 2019, the agreement between diagnostic tests was investigated by comparing the diagnostic performance for eye posterior pole pathologies of the images obtained by a smartphone coupled to a medical device known as open retinoscope (OR), handled by a nurse and subsequently assessed by an ophthalmologist versus the images obtained by an ophthalmologist using a slit lamp associated to a 76 diopter indirect ophthalmic lens (Volk Super FieldVR ) (SL-IOL) at the outpatient department of a hospital. The OR used in this study worked with a 28 diopter indirect lens. Results: An examination of 151 dilated eyes (79 adult patients, mean age of 66.7 years, 59.5% women) was conducted. Sensitivity was 98.9%, specificity was 89.8%, the positive predictive value was 93.8% and the negative predictive value was 98.2%. The kappa index between both tests was 0.90 (95% CI: 0.83-0.97) in basic diagnosis, 0.81 (95% CI: 0.74-0.89) in syndromic diagnosis (13 categories) and 0.70 (95% CI: 0.62-0.77) in advanced diagnosis (23 categories). Discussion: Images obtained by a nurse using a smartphone coupled to the OR and subsequently assessed by an ophthalmologist showed a high diagnostic performance for eye posterior pole pathologies, which could pave the way for remote ophthalmology systems for this patient group.

Current and Future Trends in the Laboratory Diagnosis of Sexually Transmitted Infections

Sexually transmitted infections (STIs) continue to exert a considerable public health and social burden globally, particularly for developing countries. Due to the high prevalence of asymptomatic infections and the limitations of symptom-based (syndromic) diagnosis, confirmation of infection using laboratory tools is essential to choose the most appropriate course of treatment and to screen at-risk groups. Numerous laboratory tests and platforms have been developed for gonorrhea, chlamydia, syphilis, trichomoniasis, genital mycoplasmas, herpesviruses, and human papillomavirus. Point-of-care testing is now a possibility, and microfluidic and high-throughput omics technologies promise to revolutionize the diagnosis of STIs. The scope of this paper is to provide an updated overview of the current laboratory diagnostic tools for these infections, highlighting their advantages, limitations, and point-of-care adaptability. The diagnostic applicability of the latest molecular and biochemical approaches is also discussed.

Myeloradiculoneuropathy due to vitamin B12 deficiency: an unusual clinical and radiological presentation

A 42-year-old man from rural India presented with asymmetric progressive paraparesis mimicking compressive dorsal myelopathy, followed by distal upper limb, truncal and neck-flexor weakness, further complicated by acute urinary retention. His sensory deficits were marked by loss of joint position sense (JPS) and graded loss of vibration sense, along with a definite sensory level. Deep tendon jerks were hypo-to-areflexic, plantar was bilaterally extensor. He had become less attentive and occasionally failed to keep track with conversations. A syndromic diagnosis of myeloradiculoneuropathy with cognitive impairments was made. Further tailored investigations revealed vitamin B12 deficiency with positive anti-parietal cell antibody. Diagnosis of subacute combined cord degeneration (SACD) was confirmed. Neuro-imaging revealed intramedullary intensity changes only along lateral aspect of spinal cord instead of characteristic posterior involvement. Following parenteral vitamin B12 supplementation, patient started showing improvement in motor power and subjective sensory symptoms. His bladder symptoms persisted initially, however recovered finally after 6 months.

Oronasal Fistula Incidence Associated With Vomer Flap Repair of Cleft Palate: A Systematic Review and Meta-Analysis

Objectives: To determine the incidence of oronasal fistulas (ONF) associated with primary repair of the anterior palate using a single-layered, superiorly based, vomer mucoperiosteal flap. Design: A systematic review of MEDLINE, PubMed, Cochrane, and Web of Science databases using the keywords: “vomer flap” and “cleft palate repair” were carried out. A meta-analysis was performed using random effect modeling with stratified analysis by syndromic diagnosis, number of surgeons, and mean age. Main Outcome Measure(s): Incidence of ONFs. Results: The meta-analysis included 9 studies with a total of 464 children who met inclusion criteria. The overall ONF rate was 3.0% (95% CI: 1.0-9.0). Fistula rates were not significantly different in studies that included syndromic patients compared to studies that did not, 5.0% (95% CI: 1.0-24.0) versus 3.0% (95% CI: 1.0-6.0), respectively. There was no significant difference between studies in which there was a single surgeon versus multiple surgeons, 3.0% (95% CI: 1.0-13.0) versus 4.0% (95% CI: 1.0-8.0), respectively. Age at the time of cleft repair showed no statistically significant difference in fistula rate when comparing children with a mean age less than 12 months to those greater than 12 months, 3.0% (95% CI: 1.0-5.0) versus 5.0% (95% CI: 1.0-28.0), respectively. Conclusions: The vomer flap technique in cleft palate repair appears to be associated with a low ONF rate unaffected by syndromic diagnosis, number of surgeons, or patient age at time of repair.