The Tree Flap: A Novel Modification of the Hatchet Flap for Lower One-third Nasal Reconstruction.

Nasal reconstruction after skin cancer excision has routinely been challenging without any aesthetic sequelae, and any defects on the nose are readily noticeable. To circumvent this problem, surgeons have developed different flap techniques to mobilize adjacent tissue to repair aesthetically sensitive defects. We describe our experience, outcomes, and valuable tips for using the "tree flap," a novel modification of the hatchet flap that extends the back cut to significantly increase mobility, leaving only a small skin paddle to maintain perfusion to the flap. The combination of undermining, a rotatory component, and minimal skin attachment allows radical mobility without compromising blood supply. Thus, the tree flap allows for reconstruction of defects of the dorsum of the nose and defects near the nasal tip with ease, given both advancement and rotational movements. Compared with other local flaps such as the shark pedicle flap or bilobed flap, the tree flap has a similar learning curve, minimal donor site morbidity, and equivalent aesthetic outcome. It may be used to repair larger defects that may not be amenable to the bilobed flap as an alternative to a full-thickness skin graft. In our experience, the tree flap also has the advantage of a lower rate of pin cushioning when compared with other options such as the bilobed flap. The tree flap has great mobility and is a reliable option for reconstruction of the lower one-third of the nose with excellent aesthetic results and minimal complications.

Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial.

BACKGROUND: US food and drug administration has recently approved deflazacort for Duchenne muscular dystrophy (DMD) and recommended the dosage of 0.9 mg/kg/d for patients aged ≥5years. However, data assessing the minimal efficacious dose and need of dose-titration based on age or disease severity is limited. OBJECTIVE: To determine whether deflazacort 0.45 mg/kg/d (proposed lower dosage) is non-inferior to 0.9 mg/kg/d among newly diagnosed patients with DMD. METHOD: A double-blinded, non-inferiority, randomized trial, conducted between December 2018 and July 2020. Newly diagnosed patient aged 5-15 years with genetic or muscle biopsy confirmed DMD and baseline 6-min walk distance (6MWD) > 150 m were screened. Patients were randomly assigned (1:1), stratified to prespecified subgroups by age (≤7years and >7years), and baseline 6MWD (≤350 m and >350 m), to receive either 0.45 mg/kg/d or 0.9 mg/kg/d regimens. The primary endpoint was the change in 6MWD, from baseline to week-24 of intervention. The trial was powered with a predefined, non-inferiority margin of 30 m. The analyses were by modified intention-to-treat (mITT). RESULT: A total of 97 patients were enrolled, 40 receiving 0.45 mg/kg/d and 45 receiving 0.9 mg/kg/d deflazacort comprised of mITT population. For primary endpoint analysis the mean (SD) change in 6MWD from baseline to week-24 was 9.7 m (41.5) in deflazacort 0.45 mg/kg/d, and 34.7 m (43.5) for 0.9 mg/kg/d. The mean difference in change in 6MWD across the group was 24.8 m (95% CI 6.7 to 43, p value 0.008). The mean difference in change in 6MWD in the subgroups of boys ≤7 years of age was 21.8 m (95% CI -0.82, 44.5, p = 0.059), with baseline 6MWD of >350 m was 19.9 m (95% CI -2.4, 42.4; p = 0.08). The incidence of combined moderate to severe treatment-related adverse events was significant in the 0.9 mg/kg/d group by week 24 (odds ratio 0.36 [95% CI, 0.14 to 0.89], p = 0.03). DISCUSSION: The efficacy of proposed low dose deflazacort in comparison to the standard dose did not meet the prespecified criteria for non-inferiority. The low dose deflazacort was non-inferior in subgroup of patients with age ≤7 years and baseline 6MWD of >350 m. TRIAL REGISTRATION: Clinical Trial Registry-India Identifier: CTRI/2019/02/017388.

Prevalence of peripheral neuropathy and associated risk factors in children with type 1 diabetes.

AIM: To detect the prevalence of diabetic polyneuropathy (DPN) in children with type 1 diabetes (T1D) and to identify associated the risk factors. METHODS: This cross-sectional study evaluated children aged between 2 and 16y with T1D for ≥2 y. Detailed neurological examination, neuropathy symptom score, and nerve conduction studies were done in all children to assess nerve dysfunction. Disease-related factors were evaluated for the prediction of neuropathy. RESULTS: Sixty-six children (67% boys) were enrolled. The mean age at the time of diagnosis of T1D was 7.1 ± 2.6 years. The mean duration of diabetes was 4 ± 1.8 years. None of the patients had neuropathy on clinical examination or on the neuropathy symptom score. The prevalence of subclinical DPN was 18.2% (n = 12/66). The type of neuropathy was pure motor (n = 11, 91.6%) and mixed sensorimotor (n = 1, 8.3%). The common peroneal nerve was most commonly affected (n = 6, 50%), followed by the tibial (n = 4, 33.3%) nerve. The most common patterns of nerve involvement were mixed axonal and demyelination (n = 7, 58.3%), followed by axonal (n = 3, 25%) and demyelinating type (n = 2, 16.6%). Children with subclinical DPN had a significant reduction in velocity of tibial, common peroneal, median motor, and ulnar motor nerves; delayed latency in common peroneal, median motor, ulnar motor, and median sensory nerves compared to those without DPN (p value <0.05). A higher body mass index predicted the development of subclinical DPN (p value <0.05). CONCLUSION: Nearly one-fifth of children with T1D have subclinical neuropathy as early as two years of the disease. A higher body mass index is significantly associated with DPN. Electrophysiological studies should be performed regularly to screen for nerve dysfunction and its progression.

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.

BACKGROUND: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction. Although neuro-psychological features are common in patients with WRS, malformations of cortical development (MCDs) are rarely reported. CASE PRESENTATION: A 3-month-old boy, born to non-consanguineous parents, presented with right focal seizures since two months of age and recently detected diabetes mellitus. He also had a small head and lissencephaly-pachygyria spectrum on brain imaging. Genetic testing confirmed the diagnosis of WRS by identifying a biallelic homozygous deletion of exon 1 in the EIF2AK3 gene. The child achieved reasonable glycemic control on the basal-bolus insulin regimen. CONCLUSIONS: Presentation of WRS may occur with neurological manifestations such as lissencephaly-pachygyria spectrum. Early confirmation of the genetic diagnosis of WRS by screening for pathogenic variants in the EIF2AK3 gene is important in children with NDM and associated syndromic features. Establishing the diagnosis of WRS helps in predicting the development of subsequent clinical features, guides management, and may improve patient outcomes.

Neuropathological findings in a 17-month-old boy with kinky hair due to Menkes disease.

Menkes disease is a neurodegenerative metabolic disorder. It is an X-lined recessive disorder of copper metabolism. It is characterized by seizures, developmental delay with loss of achieved milestones, along with skin and hair changes. We present such a genetically proven case of Menkes disease in a 17-month-old boy with seizures, cyanosis, and dyspnea. On evaluation, the child had low serum copper and ceruloplasmin. Magnetic resonance imaging revealed diffuse atrophy of the cerebrum, cerebellum with tortuosity of intracranial vessels. Autopsy confirmed the imaging findings along with dense gliosis, myelin loss, and significant loss of neurons in the cortex. Cerebellum showed aberrant dendritic arborization, somal sprouts, and axonal torpedoes within the Purkinje neurons. This report illustrates the classical presentation of in a genetically proven case of Menkes disease at autopsy, which has not been described in the recent literature.

Metabolic Epilepsy.

Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. Improvement in diagnostics has improved the detection of a metabolic basis of recurrent seizures in neonates and children. The term 'metabolic epilepsy' is used to suggest inherited metabolic disorders with predominant epileptic manifestations as well as those where epilepsy is part of the overall neurological phenotype. Several of these disorders are treatable, and the physician should bear in mind the classical ages of presentation. As there are no specific clinical or electrographic features suggestive of metabolic epilepsies, an early suspicion is based on clinical and laboratory clues. Fortunately, with the advancement of gene sequencing technology, a diagnosis of these rare conditions is more straightforward and may not require invasive procedures such as biopsies, multiple metabolic stress-induced testing for abnormalities, and cerebrospinal fluid analysis. A gene panel may suffice in most cases and can be done from a blood sample. In many countries, many treatable metabolic disorders are now part of the neonatal screen. Early diagnosis and treatment of these disorders can result in the prevention of a full-scale metabolic crisis and improvement of neurological outcomes. Long-term neurological outcomes are variable and additional therapies may be required.