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• An understanding of thyroid embryogenesis and the physiology of the thyroid gland in the perinatal period is important for proper interpretation of abnormal laboratory results and initiation of appropriate treatment. • Appropriate thyroid hormone function is essential for normal neurodevelopment in infancy and childhood. Hypothyroidism in the first year of life can result in significant deleterious effects on growth and neurologic injury. • Delay in treatment of congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. • Neonatal screening can provide early diagnosis and can prevent delays in treatment. Newborn screening methods differ and may possibly miss rare forms of congenital hypothyroidism. • Eighty-five percent of cases of permanent CH are associated with abnormal development of the thyroid gland. • In preterm newborns, thyroid hormone levels may fall because of immaturity of the thyroid gland, but these changes may be exacerbated by complications of prematurity. • Thyroid metabolism can be affected by exogenous sources of iodine, dopamine infusions, blood transfusion, and glucocorticoid treatment. • The clinical manifestations of Graves disease in the newborn include irritability, flushing, diarrhea, vomiting, tachycardia, hypertension, poor weight gain, thyroid enlargement, and exophthalmos. • There is concern for neurologic damage in infants with hemangiomas when hypothyroidism is occult and untreated.

• Current American Urological Association guidelines do not recommend ultrasound for the evaluation of undescended testicles. • Children with an undescended testicle should be referred to a pediatric urologist at approximately 6 months of age. • Infants with bilateral nonpalpable testicles should be evaluated for possible congenital adrenal hyperplasia. • Infants with hypospadias and unilateral or bilateral undescended testicles should be evaluated for disorder of sexual development. • Repair of hypospadias is recommended at between 6 months and 1 year of age. • Bladder exstrophy repairs are currently delayed to 3 months of age. • A voiding cystourethrogram should be performed in infants with high-grade hydronephrosis and bilateral hydronephrosis. • Most hydroceles in infants are noncommunicating, and infants should be referred to a urologist if they fluctuate in size suggesting a communicating hydrocele. • Vesicoureteral reflux is more common in male infants and has a high rate of resolution.

Myasthenia gravis (MG) is an autoimmune condition affecting the neuromuscular junction characterised by weakness and fatiguability, carrying a high morbidity if treatment is delayed. A clear association with thymoma has led to management with thymectomy as a common practice, but MG presenting post-thymectomy has rarely been reported. We present a case of an 82- year-old woman developing fatigue, ptosis and dysarthria 3 months after thymectomy. After a clinical diagnosis of MG was made, she responded well to prompt treatment with prednisolone and pyridostigmine. Her anti-acetylcholine receptor antibody (anti-AChR) subsequently came back positive. Our systematic review reveals that post-thymectomy MG can be categorised as early-onset or late-onset form with differing aetiology, and demonstrated correlation between preoperative anti-AChR titres and post-thymectomy MG. The postulated mechanisms for post-thymectomy MG centre around long-lasting peripheral autoantibodies. Clinicians should actively look for MG symptoms in thymoma patients and measure anti-AChR preoperatively to aid prognostication.

PURPOSE To determine the predictive value of International Classification of Diseases, 9th Revision (ICD-9) codes for identifying infantile eye diagnoses. METHODS Population-based retrospective cohort study of all residents of Olmsted County, Minnesota diagnosed at ≤1 year of age with an ocular disorder. The medical records of all infants diagnosed with any ocular disorder from January 1, 2005, through December 31, 2014, were identified. To assess ICD-9 code accuracy, the medical records of all diagnoses with ≥20 cases were individually reviewed and compared to their corresponding ICD-9 codes. Main outcome measures included positive predictive value (PPV), negative predictive value (NPV), sensitivity, and specificity of ICD-9 codes. RESULTS In a cohort of 5,109 infants with ≥1 eye-related ICD-9 code, 10 ocular diagnoses met study criteria. The most frequent diagnoses were conjunctivitis (N = 1,695) and congenital nasolacrimal duct obstruction (N = 1,250), while the least common was physiologic anisocoria (N = 23). The PPVs ranged from 8.3% to 88.0%, NPVs from 96.3% to 100%, sensitivity from 3.0% to 98.7%, and specificity from 72.6% to 99.9%. ICD-9 codes were most accurate at identifying physiologic anisocoria (PPV: 88.0%) and least accurate at identifying preseptal cellulitis (PPV: 8.3%). In eye specialists versus non-eye specialists, there was a significant difference in PPV of ICD-9 codes for conjunctivitis (26.8% vs. 63.9%, p

To determine the prevalence of abnormal laryngeal findings during videostroboscopy in performers presenting to clinic or when having an acute vocal emergency.Retrospective study of professional singers and actors who presented for a vocal evaluation.A chart review of singers or professional actors who presented in a private otorhinolaryngology clinic between 2014 and 2016. The prevalence of laryngeal lesions noted on stroboscopy were reviewed. The RFS (reflux finding score) was calculated and the exams that presented RFS greater than or equal to seven were considered suspicious of laryngopharyngeal reflux (LPR).A total of 140 records of actors and singers were evaluated either for routine evaluation or for an acute emergency. Sulcus vocalis was the most prevalent lesion 36% (n = 33), followed by cyst 27% (n = 25) and acute laryngitis, 14% (n = 13). Thirty-seven (26.4%) performers were treated for emergence due to dysphonia, Emergency dysphonia, mostly due to viral infection, was treated with steroids and speech therapy, with improvement of symptoms after treatment. Of these professionals, 83.8% (31) presented with a structural lesion or infection in the vocal folds, while 16.2% presented with dysphonia, which required emergency care without a structural lesion in the vocal folds. (P0.05) Eighty-nine percent (33) of the professionals presenting with a voice emergency with dysphonia (37) were treated with corticosteroids. Thirty-three percent (n = 47) of the professionals presented with RFS scores ≥7. Nineteen professionals (40%) with signs of LPR were treated for emergency due to dysphonia. The professionals with signs of LPR had more emergency dysphonia than those who did not suspect LPR. (19.4%) (P = 0.008).Vocal emergencies in professionals are common in a private laryngology practice and require specialized assessment. The most prevalent lesions in the study were vocal sulcus. LPR is common in this group as noted both by findings with videostroboscopy and the RFS.

A fetus with features of hydrops was given intra-uterine transfusion at 27 weeks and 31 weeks of gestation. Mother had been alloimmunized with anti-D and anti-C antibodies. At birth, laboratory investigations revealed bone marrow suppression along with features of hemolytic anemia. The neonate was started on a combination of phototherapy and intravenous immunoglobulin. During the course, the neonate was transfused with one unit of packed red cells (top-up transfusion). Neonatal hyperbilirubinemia responded to phototherapy and the bone marrow activity spontaneously resumed after 3 weeks of life. In neonates with anemia at birth who have history of multiple intra-uterine transfusions, early-onset hypoproliferative anemia should be considered.

Background: The aim of the study was to analyze the weaning success, the type of weaning procedures, and weaning duration in consecutive infants hospitalized over a winter season in a Pediatric Intensive Care Unit.Methods: A retrospective observational study in a pediatric intensive care unit in a tertiary center. Infants hospitalized for a severe bronchiolitis were included and the weaning procedure from continuous positive airway pressure (CPAP), noninvasive ventilation (NIV) or high flow nasal cannula (HFNC) was analyzed.Results: Data from 95 infants (median age 47 days) were analyzed. On admission, 26 (27%), 46 (49%) and 23 (24%) infants were supported by CPAP, NIV and HFNC, respectively. One (4%), nine (20%) and one (4%) infants failed weaning while supported by CPAP, NIV or HFNC, respectively (p=0.1). In infants supported by CPAP, CPAP was stopped directly in 5 patients (19%) while HFNC was used as an intermediate ventilatory support in 21 (81%). The duration of weaning was shorter for HFNC (17 hours, [IQR 0-26]) than for CPAP (24 hours, [14-40]) and NIV (28 hours, [19-49]) (pConclusions: The weaning phase represent a large proportion of noninvasive ventilatory support duration in infants with bronchiolitis. The weaning procedure following a “step down” strategy may lead to an increase in duration of weaning.

BackgroundDevelopmental dysplasia of the hip (DDH) is a cluster of hip development disorders that affects infants. The incidence of DDH-related dislocation (DDH-dislocation) is reportedly 0.1-0.3%; however, the nationwide incidence of DDH-dislocation in Japan has not been previously reported. The primary aim of this study was to report the nationwide incidence of DDH-dislocation in Japan using the National Database of Health Insurance Claims and Specific Health Checkups of Japan (NDB), and to examine its regional variation across Japan.MethodsThis was a retrospective birth cohort study using the NDB. Data on patients born between 2011 and 2013 and assigned DDH-dislocation-related disease codes during 2011-2018 were extracted. Among these, patients who underwent treatment for DDH-dislocation between 2011 and 2018 were defined as patients with DDH-dislocation.ResultsAcross the 2011, 2012, and 2013 birth cohorts, 2367 patients were diagnosed with DDH-dislocation, yielding the nationwide incidence of 0.076%. Region-specific incidence rates were almost similar across Japan. Secondary analyses revealed that 273 (11.5%) patients were diagnosed at the age of ≥1 year. The effect of birth during the cold months on the incidence of DDH-dislocation was significant (relative risk [RR]=1.89, 95% confidence interval [CI]: 1.75-2.06). The risk of DDH-dislocation among girls was approximately seven times higher than that among boys.ConclusionsThis is the first study to report the nationwide incidence of DDH-dislocation in Japan, which was estimated at 0.076%. The regional variation was trivial and unlikely to be clinically significant. Thus, the incidence rates were approximately equal across all regions in Japan.

Introduction Clozapine is an atypical antipsychotic drug eligible for treatment-resistant schizophrenia. It frequently represents the best and the only choice in resistant schizophrenia. However, its use is feared by many professionals due to its possible adverse effects, such as eosinophilia. Case report We report a case of a young white male suffering from treatment-resistant schizophrenia who rapidly developed eosinophilia after starting clozapine. Discussion We present a case of a 26-year-old white man diagnosed with schizophrenia with poor clinical response to several antipsychotics owing to which clozapine was started. Psychotic symptoms improved dramatically but a progressively ascendant eosinophilia was reported during serial haematological analyses. The patient remained physically asymptomatic. An exhaustive assessment with ancillary diagnostic tests revealed no cause for eosinophilia. Thus, a diagnosis of clozapine-induced eosinophilia was made. The drug was discontinued and eosinophil count progressively returned to normal but psychotic symptoms worsened. Conclusions Clozapine treatment is frequently feared due to its possible side effects and complications, delaying its use in refractory schizophrenia. Also, to our knowledge, there are no specific guidelines on how to manage haematological side effects such as eosinophilia. This is problematic as, in some cases, it may lead to an unnecessary withdrawal of clozapine with a worsening of psychotic symptoms. We present a brief discussion of the recent literature on the subject.

Background Neonates at risk of hypoglycemia are often roomed in with mothers, but there is paucity of literature on the occurrence of hypoglycemia in these exclusively breastfed high-risk neonates. The primary objective was to estimate the incidence of hypoglycaemia in high-risk neonates on exclusive breastfeeding. The secondary objectives were to study the time of presentation, symptoms of hypoglycaemia, and the various maternal and neonatal risk factors. Methods This prospective observational study was carried out in a tertiary care teaching hospital of eastern India between January 2017 and June 2018. All neonates roomed in with mothers with high-risk factors such as low birth weight, preterm, small for gestational age, large for gestational age and infants of diabetic mothers were included. All included neonates were exclusive breastfed and underwent blood glucose monitoring at 2, 6, 12, 24, 48 and 72 h of life using glucometer strips and also whenever clinical features suggested hypoglycaemia. Hypoglycemia was defined as the blood glucose level ≤46 mg/dL. Results Of a total of 250 neonates studied, 52 (20.8%) developed hypoglycaemia in first 72 h. Hypoglycaemia was detected in most at 2 h with the second peak at 48 h of age. Only 8 (3.2%) neonates had symptomatic hypoglycaemia with jitteriness being the commonest symptom, followed by lethargy and poor feeding. Conclusion There is a need to closely monitor the blood glucose levels for at least first 48 h in high-risk neonates roomed in with mothers on exclusive breastfeeding.

Purpose To report the case of a patient presenting with newly diagnosed atypical hemolytic uremic syndrome (aHUS) and Purtscher-like retinopathy. Methods Observational case report and review of literature. Patient A 38-year-old female presented with 3 months of rashes, fevers, arthralgias, and abdominal pain. Initial workup was suggestive of hypereosinophilic syndrome or adult-onset Still's disease. The patient developed acute renal failure and progressively blurry vision bilaterally over the course of 5 days. Funduscopic exam was notable for numerous Purtscher flecken and cotton-wool spots, with rare intraretinal hemorrhages at the posterior pole. The constellation of renal failure, hemolytic anemia, and thrombocytopenia prompted a work-up for thrombotic microangiopathy that was remarkable for a mutation in the gene coding for complement protein C9. Results The patient was diagnosed with aHUS. The patient was treated with intravenous pulse dose steroids for 3 days and an extended course of eculizumab. The patient's renal failure resolved, and her visual acuity improved, though she had residual visual field constriction and developed bilateral optic atrophy. Outcomes of other cases of Purtscher-like retinopathy related to aHUS are reviewed. Conclusion Purtscher-like retinopathy is a rare, but severe ophthalmic complication of aHUS. Eculizumab is an effective treatment for the systemic illness caused by aHUS, and anatomic resolution of Purtscher-like retinopathy may follow, although visual prognosis remains guarded. Recovery of visual acuity may lag behind resolution of macular edema in these patients.

Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.

We report a case of a 60-year-old man who struggled with frequent migraines for 12.5 years, which were refractory to all conventional therapies. Six months before initial consultation, these migraines become chronic. The patient was then advised to follow the Low Inflammatory Foods Everyday (LIFE) diet, a nutrient-dense, dark green leafy vegetable-rich, whole food plant-based diet. Within 2 months, his headache frequency declined from 18 to 24 headache days per month to 1, and he discontinued his preventive and abortive migraine medications. After 3 months, the patient had no headaches. These results far exceed the goal of migraine treatment with medication, which is to reduce migraine frequency by >50% per month. In addition, the results were durable; this patient has been migraine-free for 7.5 years. Serum beta-carotene more than tripled after the patient started the LIFE diet, consistent with its high content of dark green leafy vegetables. Weight, high-sensitivity C-reactive protein (hsCRP), complete blood count (CBC), hydration status, sodium and other electrolytes remained constant throughout the study.

Current literature suggests an increased risk of venous thromboembolism (VTE) in people living with HIV (PLWH) with poorly controlled viraemia and immunodeficiency. VTE treatment guidelines do not specifically address anticoagulation management in PLWH. We report a case of a 33-year-old woman diagnosed with an unprovoked pulmonary embolism (PE) and deemed protein S deficient. Three years later, she was diagnosed with AIDS. Antiretroviral therapy (ART) was promptly initiated with viral suppression and immune reconstitution within 12 months. Eight years after her initial PE, the patient self-discontinued warfarin. Multiple repeat protein S values were normal. ART without anticoagulation has continued for 3 years with no thrombotic events. This case describes a patient with VTE presumably secondary to undiagnosed HIV with possible consequent acquired protein S deficiency. Additional research is needed to understand the characteristics of PLWH with VTE who may warrant long-term anticoagulation as opposed to shorter courses.

We present the case of a young male patient who presented with paralysing muscle weakness due to severe hypokalaemia and hypophosphataemia. The initial patient history evaluations could not establish the aetiology. Only after we reviewed the patient’s history did he reveal that he had been following a severe calorie-restricted regime, the human chorionic gonadotropin diet, which had ended 2 days prior to developing symptoms. This information then allowed us to diagnose severe refeeding syndrome. As a further complication, the patient developed rhabdomyolysis. After correction of serum electrolytes, symptoms resolved completely. This case emphasises the potential harm of severely calorie-restricted diets, often recommended by online ‘experts’. Furthermore, we underline the importance of thorough history taking.

The most common cause of congenital heart block (CHB) is neonatal lupus, an acquired autoimmune disease caused by transplacental transfer of maternal antibodies to the fetus. A full-term female neonate was admitted to neonatal intensive care unit for severe bradycardia with stable haemodynamics. The mother, showing no clinical symptoms or any particular history, was transferred to our tertiary centre for profound fetal bradycardia. At birth, the infant’s ECG showed a third-degree atrioventricular block and echocardiography was normal. Cardiac neonatal lupus was confirmed with positive maternal anti-Ro antibodies. Under close monitoring, the infant tolerated the bradycardia well (median 67 beats per minute (bpm)) and was discharged on day 6 of life. There was no indication for pacemaker, but she would be on regular follow-up with a paediatric cardiologist. This article holds an important insight as it is the first confirmed case of autoimmune CHB in Cambodia in which the mother’s antibody was found only after diagnosis on the neonate.

We present a case of a 51-year-old immunosuppressed man with underlying chronic lymphoproliferative leukaemia (CLL), who presented to us in emergency with breathlessness, hydrophobia, anxiety and restlessness. He had a history of category 3 dog bite 2 months ago and had received a full course of rabies immunoglobulin and antirabies vaccine (ARV) as per the national schedule. As there were frank clinical reports of rabies, the patient was managed according to Milwaukee regimen. The patients died within a week of the appearance of symptoms. The brain autopsy revealed Negri bodies conforming the mortality due to rabies.Immunosuppressed patients, like our patient who had CLL have low antibody formation after rabies prophylaxis. Antibody titres in immunosuppressed patients need to be measured after the 2–4 weeks of the last injection of ARV to decide whether a booster of ARV needs to be administered or not.

A 4-year-old boy presented with acute febrile illness with altered sensorium, decreased responsiveness to command, excessive sleepiness, headache and generalised-onset motor seizures for the past 2 days with intact bladder and bowel control. There was no history of jaundice, change in the colour of

Objectives In 2012, onetime hepatitis C virus (HCV) screening was recommended for all baby boomers (people born during 1945-1965) in the United States, but only 4.0%-12.9% of baby boomers have ever had a screening ordered by a health care provider. This study examined the HCV screening prevalence among adult patients in a large academic health care system and assessed factors associated with the completion of screening when ordered for baby boomers. Methods We defined HCV screening completion as the completion of an HCV antibody test when it was ordered. We used electronic health records to examine HCV screening completion rates among adults (N = 106 630) from August 1, 2015, through July 31, 2020, by birth cohort. Among baby boomers whose health care provider ordered HCV screening, we examined frequency and percentages of HCV screening completion by sociodemographic and clinical characteristics. We conducted univariate and multivariable logistic regression analyses to assess factors associated with HCV screening completion among baby boomers. Results During the study period, 73.0% of baby boomers completed HCV screening when it was ordered. HCV completion did not differ by sex or race and ethnicity among baby boomers. Baby boomers with Medicare supplemental health insurance compared with commercial health insurance (adjusted odds ratio [aOR] = 1.87) and those seeing only advanced practice professionals compared with specialty care physicians (aOR = 2.24) were more likely to complete HCV screening when it was ordered. Conclusions Noncompletion of HCV screening is one of many barriers along the HCV treatment continuum. Our findings suggest a need for interventions targeting systems, health care providers, and patients to increase HCV screening rates in the United States.

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. Methods: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. Results: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. Conclusion: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.

A teenage high school student underwent an X-ray of the chest during a routine physical examination at the time of admission to school, which revealed marked tracheal stenosis ([figure 1A][1]). The boy was diagnosed with Graves’ disease a year before due to goitre and easy fatigability and was

A 25-year-old woman with a history of immune thrombocytopaenia (ITP) in childhood was referred to haematology clinic for review with a platelet count of 50 μ/L at 9 weeks gestation, gravida 2, para 0. She developed progressive severe thrombocytopaenia as the pregnancy progressed, with associated bleeding complications. The thrombocytopaenia was refractory to standard therapies. This led to a need for a planned delivery, which was performed via caesarean section under general anaesthetic with platelet transfusion support, Intravenous Immune Globulin (IVIG), high-dose corticosteroid and the thrombopoietin (TPO) mimetic romiplostim. Both the mother and the neonate survived; however, the neonate required treatment for severe prolonged neonatal thrombocytopaenia. The patient subsequently re-presented 15 months later with recurrent ITP complicating another pregnancy, refractory to rituximab but responsive to romiplostim. She had a successful elective caesarean section under epidural anaesthesia, but the neonate once again suffered severe thrombocytopaenia, which was responsive to IVIG.

A 36-year-old man with schizophrenia, on two times per day clozapine, presented with a 2-year history of diffuse intermittent body pain.Per chart review—and on presentation—his physical examination had been consistently unremarkable, without point-tenderness elicited at any major muscle groups or focal neurological deficits. Workup for myopathy, neuropathy and supratherapeutic clozapine levels had similarly been unrevealing.Given that prior interventions had been unsuccessful in alleviating these symptoms, we queried whether clozapine might have been contributory. As a result, we adopted a previously described strategy of scheduling the bulk of patients’ medication during non-waking hours.At 1-month follow-up, the patient reported about a 50% improvement in his symptoms. At 6-month follow-up, this improvement in symptoms had been sustained.Our findings add to the limited anecdotal reports of this side effect whose true prevalence remains unknown. Timely recognition has the potential to promote adherence to therapy among patients in the maintenance phase.

A fit middle aged man presented to the emergency department with headache, myalgia, vomiting, fever and rigours. He was hypotensive with mottled peripheries, tachycardic and dyspnoeic. The only significant medical history noted was an emergency splenectomy 30 years previously following a road traffic accident. The patient had been on prophylactic antibiotics initially and was vaccinated in line with recommendations at the time following splenectomy with no significant health issues in the intervening years. The patient was treated empirically for septic shock and meningitis based on presentation and admitted to the intensive care unit for pressor support and subsequently required intubation and ventilation. Investigations revealed bilateral pneumonia. Streptococcal pneumoniae urinary antigen and serum S. pneumoniae PCR were positive supporting a diagnosis of invasive pneumococcal infection. A lumbar puncture was negative for meningitis. Distal mottling affecting all limbs progressed with resultant bilateral upper limb digit and below knee amputation. The patient subsequently required extensive rehabilitation. Following a prolonged tertiary and rehabilitation hospital admission, the patient made an exceptional recovery and was discharged home with ongoing appropriate support and home adaptation.

Eosinophilia can occur due to a plethora of allergic, infective, neoplastic and idiopathic conditions. Hypereosinophilic syndrome (HES) is characterised by sustained eosinophilia and multiorgan dysfunction in the absence of an identifiable cause. It may range from a self-limiting condition to a rapidly progressive life-threatening disorder, of which ischaemic stroke is a rare presentation. Such episodes can rarely be the presenting manifestation, and may develop before any other laboratory abnormality or organ involvement. We report a case of HES presented with multiorgan (neurological and renal) involvement, managed successfully with steroids and cytoreductive therapy. High initial absolute eosinophil count can be a clue to the diagnosis and early treatment should be initiated in such patients, to prevent fatal outcomes.

Primary central nervous system lymphoma (PCNSL) is infrequent and often poses diagnostic conundrums due to its protean manifestations. We present the case of a South Asian young man presenting with raised intracranial pressure and a lymphocytic cerebrospinal fluid (CSF) with pronounced hypoglycorrhachia. Progression of the neuro-ophthalmic signs while on early stages of antitubercular treatment led to additional investigations that produced a final diagnosis of primary leptomeningeal lymphoma. Treatment with chemoimmunotherapy (methotrexate, cytarabine, thiotepa and rituximab (MATRix)) achieved full radiological remission followed by successful autologous transplant. This case highlights the difficulties and diagnostic dilemmas when PCNSL presents as a chronic meningeal infiltrative process. While contextually this CSF is most often indicative of central nervous system tuberculosis and justifies empirical treatment initiation alone, it is essential to include differential diagnoses in the investigation work-up, which also carry poor prognosis without timely treatment. High suspicion, multidisciplinary collaboration and appropriate CSF analysis were the key for a correct diagnosis.

A 34-year-old man with a history of pulmonary tuberculosis in early adolescence presented to the emergency department with a 3-month history of relapsing fever, right-sided pleuritic thoracalgia and productive cough with purulent sputum. He had already received several courses of antibiotics with

An 85-year-old woman who lived in Kanuma, Tochigi prefecture, Japan, presented to the emergency department of a hospital with dyspnoea, which developed 3 hours before the visit. At the time of presentation, she was in respiratory distress, with a blood pressure of 171/88 mm Hg, heart rate of 105

Primary pneumomediastinum is the presence of air in the interstitium of the mediastinum. The exact aetiology is unclear; nevertheless, it has been reported more frequently in patients with asthma and in individuals who use recreational drugs. It is commonly preceded by a sharp rise in intrathoracic pressure as in a Valsalva-like manoeuvre. We describe a rare case of severe pneumomediastinum with a small pneumothorax related to cannabis smoking and aggravated by vigorous sexual intercourse. The patient was successfully treated conservatively due to clinical and radiological stability and the absence of secondary cause.

Objectives. To estimate use of medication for opioid use disorder (MOUD) and prescription opioids in pregnancy among mothers of infants with neonatal opioid withdrawal syndrome (NOWS). Methods. We used linked 2016–2018 North Carolina birth certificate and newborn and maternal Medicaid claims data to identify infants with an NOWS diagnosis and maternal claims for MOUD and prescription opioids in pregnancy (n = 3395). Results. Among mothers of infants with NOWS, 38.6% had a claim for MOUD only, 14.3% had a claim for prescription opioids only, 8.1% had a claim for both MOUD and prescription opioids, and 39.1% did not have a claim for MOUD or prescription opioids in pregnancy. Non-Hispanic Black women were less likely to have a claim for MOUD than non-Hispanic White women. The percentage of infants born full term and normal birth weight was highest among women with MOUD or both MOUD and prescription opioid claims. Conclusions. In the 2016–2018 NC Medicaid population, 60% of mothers of infants with NOWS had MOUD or prescription opioid claims in pregnancy, underscoring the extent to which cases of NOWS may be a result of medically appropriate opioid use in pregnancy.

The tRNA methyltransferase 10 homologue A (TRMT10A) gene encodes a tRNA methyl transferase, and biallelic loss of function mutations cause a recessive syndrome of intellectual disability, microcephaly, short stature and diabetes. A case with intellectual disability and distinctive features including microcephaly was admitted. She was diagnosed with epilepsy at 2.5 years old. At 3.6 years of age, severe short stature related to growth hormone deficiency was detected. She had an incidental diagnosis of diabetes at age 11.4 years that was negative for diabetes antibodies with persistent C-peptide level and treated with metformin. Spontaneous puberty did not begin until 15.7 years of age and she was found to have primary ovarian failure. A homozygous p.Arg127* mutation in TRMT10A was detected. In addition to the typical clinical features that characterize TRMT10A syndrome we observed in our patient an unusual form of impaired glucose metabolism that was presented in early childhood with hypoglycemia followed by diabetes in late childhood. Growth hormone deficiency and primary ovarian failure may also be additional findings of this syndrome. Patients with slow onset diabetes that are negative for auto-antibodies and have extra-pancreatic features should be tested for all known subtypes monogenic diabetes.

In the above published article there was an editing error in Table 1. The corrected table is shown below. The publishers apologise for this error.

Introduction Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Nino Jesus is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families. Objective This study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment. Patients Fifty-three patients aged between three months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia. Methods All patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy. Results Older age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission. Conclusions The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.

Major trauma has seen a demographic shift in recent years and it is expected that the elderly population will comprise a greater burden on the major trauma service in the near future. However, whether a similar trend exists in those undergoing operative intervention for spinal trauma remains to be elucidated.To compare the presentation and outcomes of patients ≥65 years of age sustaining spine trauma to those65 years at a national tertiary referral spine centre.The local Trauma Audit Research Network (TARN) database was analysed to identify spinal patients referred to our institution, a national tertiary referral centre, between 01/2016 and 05/2019. Patients were divided into a young cohort (16-64 years old) and an elderly cohort (64 years old). No explicit distinction was made between major and minor spine trauma cases. Variables analysed included patient demographics, injury severity, mortality, interventions, mechanism of injury and length of hospital stay.A total of 669 patients were admitted of which 480 patients underwent operative intervention for spinal trauma. Within the elderly cohort, this represented 75.3% of cases. Among the younger population, road traffic collisions were the most common mechanism of injury (37.1%), while low falls (2 m) (57.4%) were the most common mechanism among the older population. Patients ≥65 years old had significantly longer length of stay (21 days [1-194] v 14 days [1-183]) and suffered higher 30-day mortality rates (4.6% [0-12] v 0.97% [0-4]).Orthopaedic spinal trauma in older people is associated with a significantly higher mortality rate as well as a longer duration of hospitalization. Even though severity of injury is similar for both young and old patients, the mechanism of injury for the older population is of typically much lower energy compared to the high energy trauma affecting younger patients.

The autumn and winter bronchiolitis epidemics have virtually disappeared in the first year of the COVID-19 pandemic.Our objectives were characterised bronchiolitis during fourth quarter of 2020 and the role played by SARS-CoV-2.Prospective multi-centre study performed in Madrid (Spain) between October and December 2020 including all children admitted with acute bronchiolitis. Clinical data were collected and multiplex PCR for respiratory viruses were performed.Thirty-three patients were hospitalised with bronchiolitis during the study period: 28 corresponded to rhinovirus (RV), 4 to SARS-CoV-2, and 1 had both types of infection. SAR-CoV-2 bronchiolitis were comparable to RV bronchiolitis except for a shorter hospital stay. A significant decrease in the admission rate for bronchiolitis was found and no RSV was isolated.SARS-CoV-2 infection rarely causes acute bronchiolitis and it is not associated with a severe clinical course. During COVID-19 pandemic period there was a marked decrease in bronchiolitis cases.La epidemia de bronquiolitis de otoño e invierno prácticamente desapareció durante el primer año de la pandemia de COVID-19.Nuestros objetivos eran caracterizar la bronquiolitis durante el cuarto trimestre de 2020 y determinar el papel desempeñado por el virus SARS-CoV-2.Estudio multicéntrico prospectivo realizado en Madrid (España) entre los meses de octubre y diciembre de 2020, que incluyó a todos los niños ingresados con bronquiolitis aguda. Se recogieron los datos clínicos y se realizó una PCR múltiple para virus respiratorios.Se hospitalizó a treinta y tres pacientes con bronquiolitis durante el periodo del estudio: 28 correspondieron a rinovirus, 4 a SARS-CoV-2 y uno presentaba ambos tipos de infección. Las bronquiolitis por SAR-CoV-2 fueron comparables a las bronquiolitis por rinovirus, salvo por una estancia hospitalaria más corta. Se detectó una reducción significativa en la tasa de ingresos por bronquiolitis y no se aisló VSR.Es raro que la infección por SARS-CoV-2 cause bronquiolitis aguda y no se asocia a una evolución clínica grave. Durante la pandemia de COVID-19 se produjo un descenso pronunciado de los casos de bronquiolitis.

Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. Early detection of these heterogenous genetic disorders can inform genetic counseling, anticipatory guidance, and improve outcomes, particularly where specific treatments exist. The diagnosis relies on clinical pattern recognition, biochemical testing, neuroimaging, and increasingly next-generation sequencing-based molecular testing. In this short review, we summarize the clinical and molecular understanding of: 1) childhood-onset and complex forms of hereditary spastic paraplegia (SPG5, SPG7, SPG11, SPG15, SPG35, SPG47, SPG48, SPG50, SPG51, SPG52) and, 2) the most common inborn errors of metabolism that present with phenotypes that resemble hereditary spastic paraplegia.

Highlights • Mean HBA1c in diabetic patients increased by 0.51% in immediate post lock down period due to COVID 19. • Increased mean HBA1c may significantly increase the annual incidences of complications related to diabetes. • With early identification and multidisciplinary approach which is patient centric good glycemic control can be achieved back. • By achieving good glycemic control, the predicted annual percentage increase in complication rate can be reduced., Background and aims Diabetes is a chronic metabolic condition characterized by hyperglycemia and is associated with several complications. Prevalence of Diabetes in adult population in India ranges from 10.9 to 14.2% in urban area and 3.0–7.8% in rural area. Glycemic control is an important factor in preventing the complications associated with diabetes. HBA1c is the indicator of long-term glycemic control and slight variation in it significantly alters the risk of diabetic complications. Thus, the aim of this study was to study the change in HBA1c levels due to lock down in patients with diabetes. Methods 307 patients with diabetes who had attended our endocrine OPD in last 3 months before nationwide 68 days lockdown from 24 March 2020 to 31 May 2020, and had recent HBA1c report in past and willing to participate were included in the study after informed consent from 2nd June 2020 to 14th June 2020 when first phase of Unlock started, to identify the change in HBA1c levels during the lockdown period in our patients with diabetes. Results The patients were aged between 25–69 years and male to female ratio was 181:126 (1.44: 1). The mean age and mean duration of diabetes in our patients was 55.68 years and 7.95 years respectively. Increment of 0.51% was seen in mean HBA1c levels in our patient from 7.92% mean pre-lockdown HBA1c to mean of 8.43% after release of lock down. Conclusion Glycemic control got deranged during lockdown period with significant increase of mean HBA1c by 0.51% in immediate post lock down period which may significantly increase the annual incidence of complications related to diabetes.

Introduction: Cardiac disorders are common in patients with chronic obstructive pulmonary disease (COPD). They worsen shortness of breath and physical capacity and reduce the quality of life. Ultrasound assessment of cardiac function could contribute to assessing the severity of the disease. This study aimed to assess the prognostic significance of echocardiographic parameters on the rate of exacerbations and mortality. Materials and methods: This was a prospective study of patients with COPD without exacerbation in the previous 1 month. Patients over 40 years of age, current or former smokers with more than 10 pack-years of smoking, and postbronchodilator FEV1/FVC < 0.7 were included. All patients underwent two-dimensional transthoracic Doppler echocardiography at rest by an experienced cardiologist. Echocardiographic parameters were evaluated for prognostic significance on a composite endpoint of moderate and severe exacerbations and death for 1 year. Data from postbronchodilator spirometry, symptoms, quality of life, and demographic and clinical information were also collected. Results: A total of 96 patients were analyzed with a mean FEV1 of 55.8%. A total of 64 patients (67%) reached the composite endpoint. A significantly higher proportion of patients with deceleration time deviations (86.2 vs. 58.2%, p = 0.0055) and increased septal thickness (55.6 vs. 24.6%, p = 0.0099) reached the primary endpoint at one-year follow-up. Echocardiographic disorders showed a correlation with the quality of life, but not with lung function. Conclusion: Non-invasive assessment of cardiac function by echocardiography could be included in the complex assessment of disease severity in COPD patients.

BACKGROUND & AIMS: Patients affected by COVID-19 may develop disease related malnutrition (DRM) due to the catabolic situation, symptoms that interfere with intake and prolonged hospital stay. This study aims to know the percentage of patients admitted for COVID-19 who required artificial nutrition (AN), their clinical characteristics, as well as the prevalence of DRM and the risk of sarcopenia at hospital discharge and after 6 months. MATERIAL AND METHODS: Observational, prospective study, with successive inclusion of adult patients admitted for COVID-19 in whom institutional nutritional support (NS) care protocol was applied. Those who received AN underwent a nutritional screening by Short Nutritional Assessment Questionnaire (SNAQ) and an assessment by Subjective Global Assessment (SGA) at hospital discharge, as well as a screening for sarcopenia (SARC-F test) and SNAQ re-test 15 days and 6 months after by a phone call. Symptoms related to food intake, anthropometric and analytical data were also collected. RESULTS: We evaluated 936 patients with a mean age of 63.7 ± 15.3 years; predominantly male (59.7%), overweight 41%, obesity 40.4%; hypertension 52.9%; diabetes mellitus 26.6% and cancer 10.4%. The stay hospital length was 17.3 ± 13.8 days and 13.6% patients died during hospitalization. The modality of nutritional support was: 86.1% dietary adaptation + oral nutritional supplements (ONS); 12.4% enteral nutrition (EN) by nasogastric (NG) tube; 0.9% parenteral nutrition (PN) and 0.6% EN plus PN. Focusing on patients who received AN, follow-up post discharge was possible in 62 out of 87 who survived. Of these, at the time of hospital discharge, 96.7% presented nutritional risk by SNAQ and 100% malnutrition by SGA (20% B; 80% C). During admission, 82.3% presented intense anorexia and the mean weight loss was 10.9 ± 6 Kg (p

Cerebral palsy is the most common physical disability of childhood describing a heterogeneous group of neurodevelopmental disorders that cause activity limitation, but often are accompanied by disturbances of sensation, perception, cognition, communication and behavior, or by epilepsy. Inborn errors of metabolism have been reported in the literature as presenting with features of cerebral palsy. We reviewed and updated the list of metabolic disorders known to be associated with symptoms suggestive of cerebral palsy and found more than 150 relevant IEMs. This represents the fifth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnosis according to system involvement.

ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age (SGA), presented with short stature, and was initially diagnosed with idiopathic growth hormone deficiency. She displayed several dysmorphic features including genu valgum, cubitus valgus, and recurrent patellar dislocations. She presented with progressive advancement of BA compared to that for chronological age and whole exome sequencing confirmed the presence of a novel heterozygous nonsense variant c.1968C>G, p.(Tyr656*) of ACAN. ACAN variants should be considered in short stature patients born SGA with joint problems, particularly those with recurrent patellar dislocation and genu valgum.

A wide range of pathogens can cause meningitis or meningoencephalitis.Guiding symptoms of meningitis are headache, fever, nausea, vomiting and meningism.Guiding symptoms of meningoencephalitis are headache, fever, qualitative or quantitative disturbances of consciousness, signs of meningism are possible, optional focal neurological signs can occur.Crucial prognostic factor in treatment of acute meningitis and meningoencephalitis is rapid diagnosis and early initiation of therapy. An early start of therapy is crucial. In addition to rapid pathogen-specific treatment, specialized neurological intensive care medicine is life-saving.

Background: Assessing health-related quality of life (HRQoL) allows acquisition of the subjective perspective of patients regarding their health and functioning; however, little is known about the experiences of patients living with treated craniosynostosis (CS). Methods: School-aged children (7–16 years) treated for non-syndromic CS were assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales via both self- and proxy reports.Results: Seventy-three patients and their parents responded to the PedsQL (response rate: 80.2%). Patients generally estimated HRQoL as high, with no difference in HRQoL found between treated sagittal (SS) or metopic (MS) synostosis. In the SS group, surgical methods involving spring-assisted surgery and pi-plasty were unrelated to HRQoL outcomes. Additionally, HRQoL was highly correlated with intelligence quotient (IQ) and adaptive behavior skills (ABAS). Furthermore, we observed differences in estimated HRQoL between self- and proxy reports (i.e., parents estimated child HRQoL as higher than did the children). Conclusions: Children treated for CS have a generally high HRQoL, and neither CS type nor surgical method influenced HRQoL outcomes. Moreover, children and parents estimated HRQoL differently, suggesting the importance of using both self- and proxy reporting in patient-reported measures. We found that HRQoL was strongly related to IQ and ABAS, indicating that the PedsQL can be used as a screening instrument to identify craniofacial patients in need of further psychological assessment.

Background The incidence of orthopedic disorders amongst patients with Prader–Willi Syndrome (PWS) is high when compared to the general pediatric population. The purpose of this retrospective study was to define the most commonly performed orthopedic procedures in pediatric patients with PWS and to characterize the peri-operative outcomes of these patients. Methods The Kids Inpatient Database (KID) was queried to collect data and identify all pediatric patients with PWS who underwent orthopedic procedures from 2001 to 2012. A total of 3684 patients with PWS were identified, 334 of who underwent an orthopedic procedure. Population demographics, comorbidities, and specific procedures undergone were defined. The incidences of postoperative complications and length of associated hospital stay were additionally evaluated. Results Mean age of patients in this sample was 10.33 years (SD 4.5). The most common comorbidities included obesity (18.1%), chronic pulmonary disease (14.1%), hypothyroidism (5.1%), hypertension (5.1%), and uncomplicated diabetes (4%). Common procedures were spinal fusion (165/334, 49%) and lower extremity procedures (50/334, 15%). Complications included acute blood loss anemia, device related complications, pneumonia, sepsis, and urinary tract infections. The overall complication rate was 35.6%. Average hospital lengths of stay for patients undergoing spinal fusion was 6.68 days (SD 4.13), lower extremity orthopedic procedure was 5.65 days (SD 7.4), and all other orthopedic procedures was 7.74 days (SD 16.3). Conclusions Orthopedic disorders are common in patients with PWS. Consequently, spinal fusions and lower extremity procedures are commonly performed in this patient population. Associated comorbid conditions may negatively impact surgical outcomes in these patients. This information should prove useful in the peri-operative management of patients with PWS undergoing orthopedic surgery and for shared decision making with families.

Neisseria meningitidis, also known as meningococcus, is a relatively uncommon cause of invasive infection, but when it occurs, it is frequently severe and potentially life-threatening. A ten-year-old female patient developed a purpuric rash with fever. Upon arrival to the pediatric intensive care department, she was unconscious and in a poor general condition. We combined treatment with antibiotics, volume resuscitation, hydrocortisone, and CytoSorb® therapy resulted in a stabilization of hemodynamics, as well as control of hyperinflammation. We observed a significant decrease in vasopressor dosage in this patient.

Introduction Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to the improvement of preventive measures and to the early identification of this deficiency. Objective To identify the etiological factors of hearing loss and its prevalence in a tertiary hospital in southern Brazil, to verify the frequency of mutations in GJB2 and GJB6 genes, and to correlate the degree of hearing loss with the etiological factors of deafness. Methods This prevalence study involved 140 children with bilateral sensorineural or mixed hearing loss. Medical history, physical examination, audiometry, and evoked auditory brainstem response were conducted. Imaging and genetic examinations were also performed. Results Etiologies and their prevalence were as follows: (a) indeterminate causes, 31.4%; (b) conditions related to neonatal period, 22.1%; (c) genetic, 22.1%; (d) auditory neuropathy, 10%; (e) other factors (cortical malformation, intracranial hemorrhage, and internal ear malformations), 7.9% and (f) congenital infections, 6.4%. Within the genetic cases, ten homozygous and seven heterozygotes of the 35delG mutation were identified, besides two cases of rare variants of GJB2: p.Try172* and p.Arg184Pro. One case with homozygosis of del(GJB6-D13S1830) was found. Regarding severity of hearing loss, in 78.6% of the cases the degree of hearing loss was profound and there were no significant differences when comparing between etiologies. Conclusion The number of indeterminate etiologies is still high and congenital CMV infection may be a possible cause of undiagnosed etiology for hearing loss. The predominance of etiologies related to neonatal conditions and infectious causes are characteristic of developing countries. The most prevalent mutation was 35delG, the main GJB2 gene, probably because of the European influence in the genotype of our population. Resumo Introdução A etiologia da perda auditiva depende da população estudada, da etnia e da condição socioeconômica da região analisada. O diagnóstico etiológico contribui para o aprimoramento das medidas preventivas e para a identificação precoce dessa deficiência. Objetivos Identificar os fatores etiológicos da perda auditiva e sua prevalência em um hospital terciário do sul do Brasil, verificar a frequência de mutações nos genes GJB2 e GJB6 e correlacionar o grau da perda auditiva com os fatores etiológicos da deficiência auditiva. Método Este estudo de prevalência avaliou 140 crianças com perda auditiva neurossensorial bilateral ou mista. Foram submetidos a anamnese com histórico médico, exame físico, audiometria e potencial evocado auditivo de tronco encefálico. Exames de imagem e genéticos também foram feitos. Resultados As etiologias e sua prevalência foram as seguintes: (a) causas indeterminadas, 31,4%; (b) condições relacionadas ao período neonatal, 22,1%; (c) genética, 22,1%; (d) neuropatia auditiva, 10%; (e) outros fatores (malformação cortical, hemorragia intracraniana e malformações da orelha interna), 7,9% e (f) infecções congênitas, 6,4%. Entre os casos genéticos, foram identificados dez casos homozigotos e sete heterozigotos da mutação 35delG, além de dois casos de variantes raras do GJB2: p.Try172* e p.Arg184Pro. Foi encontrado um caso homozigoto da mutação del (GJB6‐D13S1830). Em relação à gravidade da perda auditiva, em 78,6% dos casos o grau da perda auditiva foi profundo e não houve diferenças significantes na comparação entre as etiologias. Conclusão O número de etiologias indeterminadas ainda é elevado e a infecção congênita por CMV pode ser uma possível causa de etiologia não diagnosticada para perda auditiva. A predominância das etiologias relacionadas às condições neonatais e às causas infecciosas são características de países em desenvolvimento. A mutação mais prevalente foi a 35delG e o principal gene foi o GJB2, provavelmente devido à influência europeia no genótipo de nossa população.

Idiopathic intracranial hypertension (IIH) is a neurological condition characterized by raised intracranial pressure of unknown etiology with normal cerebrospinal fluid (CSF) composition and no brain lesions. It occurs in pregnant patients at approximately the same frequency as in general population, but obstetric and anesthetic management of the pregnancy and labor remains controversial. In this article we provide a multidisciplinary review of the main aspects of IIH in pregnancy including treatment options, mode of delivery and anesthetic techniques. Additionally, we report three cases of pregnant women diagnosed with IIH between 2012 and 2019 in our institution.

Introduction Studies assessing the management of laryngopharyngeal reflux by otolaryngologists have reported an important heterogeneity regarding the definition, diagnosis, and treatment, which leads to discrepancies in the management of the patient. Information about the current knowledge and practices of Brazilian otolaryngologists in laryngopharyngeal reflux is lacking. Objective To investigate the trends in management of laryngopharyngeal reflux disease among Brazilian otolaryngologists. Methods A survey was sent by email to the members of the Brazilian Association of Otolaryngology-Head Neck Surgery. This survey has initially been conducted by the laryngopharyngeal reflux study group of young otolaryngologists of the International Federation of Otolaryngological Societies. Results According to the survey responders, the prevalence of laryngopharyngeal reflux was estimated to be 26.8% of patients consulting in otolaryngology and the most common symptoms were globus sensation, throat clearing, cough and stomach acid reflux. Nasal obstruction, Eustachian tube dysfunction, acute and chronic otitis media, vocal fold nodules and hemorrhage were considered not associated with laryngopharyngeal reflux by the majority of responders. About 2/3 of Brazilian otolaryngologists based the diagnosis of laryngopharyngeal reflux on the assessment of both symptoms and findings and a positive response to empiric therapeutic trials. Proton pump inhibitor utilized once or twice daily, was the most commonly used therapeutic scheme. Only 21.4% of Brazilian otolaryngologists have heard about nonacid and mixed laryngopharyngeal reflux and the awareness about the usefulness of multichannel intraluminal impedance pH monitoring (MII-pH) was minimal; 30.5% of responders did not consider themselves as well-informed about laryngopharyngeal reflux. Conclusion Although the laryngopharyngeal reflux-related symptoms, main diagnostic and treatment approaches referred by Brazilian otolaryngologists are consistent with the literature, the survey identified some limitations, such as the insufficient awareness of the role of laryngopharyngeal reflux in many otolaryngological conditions and of the possibility of non-acid or mixed reflux in refractory cases. Future studies are needed to establish international recommendations for the management of laryngopharyngeal reflux disease.

Objectives Changes of routine disease management associated with COVID-19 lockdown might have potentially affected the clinical course of juvenile idiopathic arthritis (JIA). Aim of our study was to assess the rate of disease flare before and during COVID-19 lockdown to investigate its impact on disease course in JIA children. Methods A single-center retrospective study was conducted, including patients presenting inactive JIA between September 1st , 2018 and March 9th , 2019 (group A) and between September 1st , 2019 and March 9th , 2020 (group B). For each patient, demographic and clinical data were collected. The rate of JIA flare from March 10th , 2019 to June 30th , 2019 for group A and from March 10th , 2020 to June 30th , 2020 for group B was compared. Results Group A included 126 patients and group B 124 patients. Statistical analysis did not show significant differences among the two cohorts with respect to age, sex, age of JIA onset, JIA subtype, co-occurrence of uveitis, ANA positivity and past or ongoing medications. The rate of disease flare during lockdown at time of first COVID-19 pandemic wave, was significantly higher in comparison to the previous year (16.9% vs 6.3%, p=0.009). Conclusion Our study showed that COVID-19 lockdown was associated with a higher rate of joint inflammation in JIA children. This finding has a considerable clinical implication, since restrictive measures may be necessary in order to contain pandemics. Our data highlight the need for rearrangement in the home and healthcare management of JIA children during lockdowns.