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Maternal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can affect placental function, but the possibility of intrauterine transmission has been debated. Several authors have published inclusion criteria for vertical transmission, but few reports exist that are able to meet the suggested requirements. Despite the fact that the majority of fetuses born to infected mothers do well, others become critically ill. We present a case of likely intrauterine transmission of a neonate born to a mother who was recently symptomatic with a positive SARS CoV-2 polymerase chain reaction (PCR). The parturient complained of decreased fetal movement and presented at 31 2/7 weeks' gestation with a biophysical profile score of 2/10 and required an emergency cesarean delivery. The neonate went on to develop severe leukopenia with signs of sepsis with a positive SARS CoV-2 PCR on day 4 of life and an otherwise pan-negative workup. Meeting criteria for transplacental transmission requires timely collection of several diagnostic studies that are not standard of care. Further research is needed to support the notion that intrauterine/transplacental infection is possible. Collection swabs should be obtained soon after delivery to help diagnose neonatal infection because early diagnosis is crucial to help identify opportunities for intervention.
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DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, haematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients. There is a paucity of data from India on the clinical diversity and molecular spectrum of DOCK8 deficiency. In the present study, we report the clinical, immunological and molecular findings of 17 DOCK8-deficient patients from India diagnosed over the last 5 years.
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Síndrome de Job , Humanos , India , Factores de Intercambio de Guanina Nucleótido/genéticaRESUMEN
Magnesium is one of the most abundant electrolytes in the human body but is often forgotten when it comes to the evaluation of an infant presenting with hypocalcemia. Its deficiency can present as neurological, cardiac and skeletal symptoms. Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive genetic disease caused by a transient receptor potential melastatin 6 gene pathogenic variant (TRMP6). The underlying defect lies in the intestinal absorption of magnesium. A delay in diagnosis and lack of timely initiation of treatment can lead to long term irreversible neurological complications and even death. We describe a case of an infant presenting with seizures and severe hypomagnesemia and hypocalcemia. Genetic analysis subsequently identified the abnormality as a frameshift mutation in the TRMP6 gene confirming the diagnosis of Familial hypomagnesemia with secondary hypocalcemia. With fewer than a hundred cases reported in the literature, we aim to highlight the importance of early diagnosis and treatment initiation and create a deeper understanding of the disease.
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Hipocalcemia , Canales Catiónicos TRPM , Lactante , Humanos , Magnesio , Canales Catiónicos TRPM/genética , Convulsiones/complicacionesRESUMEN
Accidental foreign body aspiration in children is a leading cause of childhood morbidity. Prompt recognition and timely management reduce complications, some of which are potentially fatal. A previously well 2-year-old girl presented with recurrent episodes of cough, fever and tachypnoea with chest indrawing for the previous 7 months. The first episode lasted almost 4 weeks. There was no history of choking. She was underweight (Z-score -2 to -3) with initially normal height. The chest radiograph demonstrated opacities in the left lung first, but subsequently there were lesions in both lungs. Computerised tomography confirmed the chest radiograph findings. Bronchoscopy demonstrated pus and granulomatous tissue in the left main bronchus, but no foreign body was detected and she was treated with antibiotics. Over the following 18 months she had several outpatient and four inpatient treatments for the same complaint. There was progressive weight loss, stunting and she developed finger clubbing. During her fourth admission, a repeat bronchoscopy again demonstrated granulomatous tissue with pus in the left main bronchus and remnants of a migratory peanut and signs of early bronchiectasis. Following removal of the peanut, her health began to recover, and, at follow-up a year later, her chest radiograph was normal, her growth had caught up and she was in normal health.
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Cuerpos Extraños , Neumonía , Niño , Femenino , Humanos , Preescolar , Arachis , Bronquios , Cuerpos Extraños/complicaciones , Cuerpos Extraños/diagnóstico , Supuración/complicacionesRESUMEN
Neurotuberculosis usually responds well to standard antitubercular therapy. Some; patients have prolonged course A 11 year old boy diagnosed TBM, an immunocompetent patient, had an unusual course of illness in the form of prolonged fever, persistent hyponatremia and CSF; pleocytosis despite adequate treatment. Clinical course in the management of TBM can be; protracted with complications despite adequate therapy.
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Hiponatremia/sangre , Hipovolemia/sangre , Linfopenia/sangre , Poliuria/sangre , Tuberculosis Meníngea/sangre , Antituberculosos/uso terapéutico , Linfocitos T CD4-Positivos , Linfocitos T CD8-positivos , Líquido Cefalorraquídeo/química , Líquido Cefalorraquídeo/citología , Niño , Citometría de Flujo , Fludrocortisona/uso terapéutico , Fluidoterapia/métodos , Glucocorticoides/uso terapéutico , Glucosa/líquido cefalorraquídeo , Humanos , Hiponatremia/etiología , Hiponatremia/fisiopatología , Hiponatremia/terapia , Hipovolemia/etiología , Hipovolemia/fisiopatología , Hipovolemia/terapia , Leucocitosis/líquido cefalorraquídeo , Leucocitosis/etiología , Linfopenia/etiología , Masculino , Natriuresis , Poliuria/etiología , Poliuria/fisiopatología , Poliuria/terapia , Tuberculosis Meníngea/complicaciones , Tuberculosis Meníngea/tratamiento farmacológico , Tuberculosis Meníngea/fisiopatologíaRESUMEN
J Krishnamurti, a renowned philosopher, describes fear as the transition from the convictions of the Known to the flux of the Unknown1. The weakening of the interspecies transmission barrier between the animal and human interface has strengthened this fear. Consequently, our impulsive selves have taken precedence over our reflective voices.
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Control de Enfermedades Transmisibles , Infecciones por Coronavirus , Miedo , Pandemias , Neumonía Viral , Salud Pública , Incertidumbre , Betacoronavirus , COVID-19 , Defensa Civil , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/psicología , Atención a la Salud , Salud Global , Humanos , India , Neumonía Viral/epidemiología , Neumonía Viral/psicología , SARS-CoV-2RESUMEN
BackgroundHypoxic-ischemic encephalopathy (HIE) is a major cause of neonatal morbidity and mortality. Therapeutic hypothermia (TH) is the only available intervention, but neuroprotection is incomplete and variable. Seizures are common in infants with HIE undergoing TH and may worsen outcome. Phenobarbital (PB) is sometimes added, although use of prophylactic PB is controversial in the neonate. We hypothesize that prophylactic PB will not reduce, and may enhance, the neuroprotective effects of TH on brain injury and motor outcomes in the postnatal day 10 (P10) hypoxic-ischemic (HI) rat.MethodsP10 rat pups were subjected to unilateral HI and 4 h recovery with: normothermia (N); hypothermia (TH); and hypothermia with phenobarbital (TH+PB). Brain damage was assessed longitudinally at 24 h and 2 weeks using brain magnetic resonance imaging and 12 weeks using histochemical analysis. Motor function was assessed with the beam walk and cylinder tests.ResultsTH and TH+PB induced neuroprotection, as measured by global brain damage score and improved motor function. Exploratory analyses suggest that TH+PB may confer enhanced protection, especially to the extent of damage.ConclusionProphylactic PB with TH is not deleterious and may provide additional long-term neuroprotection, including improvement of motor outcomes following HI in the term-equivalent, neonatal rat.
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Hipotermia Inducida/métodos , Hipoxia-Isquemia Encefálica/patología , Fenobarbital/uso terapéutico , Animales , Animales Recién Nacidos , Anticonvulsivantes/uso terapéutico , Conducta Animal , Lesiones Encefálicas/patología , Modelos Animales de Enfermedad , Femenino , Hipotermia , Imagen por Resonancia Magnética , Masculino , Destreza Motora , Neuroprotección , Ratas , Ratas Wistar , Convulsiones/terapia , Temperatura , Factores de TiempoRESUMEN
BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) is used to provide enteral access in patients who are unable to swallow. Infection of the stoma is an important complication and there is little data from India on this problem, which can be used to inform infection prevention and prophylactic strategies. AIM: The objective was to assess the prevalence and the role of contributory factors in PEG site infections. METHODS: A total of 173 patients underwent PEG insertion from January 2011 to May 2012. Clinical and microbiological data were collected for culture-positive cases. Insertion was performed using a standard sterile pull-through technique. Infections were defined as two of: peristomal erythema, induration, and purulent discharge. RESULTS: A total of 54 PEG infections occurred in 43 patients (28.85%). Seventy-seven organisms were isolated. Pseudomonas aeruginosa was the most common (n=29) followed by coliforms (n=21) and meticillin resistant Staphylococcus aureus (MRSA) (n=6). Thirty-one (72%) received amoxicillin-clavulanic acid as prophylaxis and 12 (28%) were receiving concomitant antibiotics for their underlying conditions. The occurrence of PEG site infections was statistically independent of the administered prophylactic antibiotics (p=0.3). CONCLUSIONS: This study has demonstrated the importance of PEG sites as a cause of healthcare associated infections. Educating patients on wound care practices would play a significant role in prevention of PEG site infections.
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Infecciones por Actinomycetales/complicaciones , Bacteriemia/etiología , Absceso Pulmonar/complicaciones , Rhodococcus equi/aislamiento & purificación , Infecciones por Actinomycetales/diagnóstico , Infecciones por Actinomycetales/microbiología , Bacteriemia/diagnóstico , Bacteriemia/microbiología , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Inmunocompetencia , Absceso Pulmonar/diagnóstico , Absceso Pulmonar/microbiología , Radiografía TorácicaRESUMEN
INTRODUCTION: Melioidosis, endemic in Thailand and in the Northern Territory of Australia is an emerging infectious disease in India which can present with varied forms. A case of melioidosis, presenting as a rare anterior mediastinal mass which can masquerade as malignancy or tuberculosis, is described here. With treatment, our patient initially showed an increase in the size of mediastinal node and development of new submandibular node.. To the best of our knowledge, this phenomenon has not been documented in the literature and the same is highlighted in this case report. CASE PRESENTATION: A 43-year-old Asian man with diabetes presented with fever, loss of appetite, weight loss for one month and painful swelling below his left mandible for five days. An examination revealed an enlarged left submandibular lymph node and bilateral axillary lymph nodes. A chest X-ray showed mediastinal widening. Computed tomography of his thorax showed a lobulated heterogeneously enhancing anterior mediastinal mass encasing the superior vena cava suggestive of malignancy. An excision biopsy of the lymph node showed granulomas suggestive of tuberculosis but bone marrow culture and lymph node aspirate culture grew Burkholderia pseudomallei. He was treated with parenteral ceftazidime and amoxicillin-clavulanic acid. During the course of treatment, he developed an enlargement of the submandibular lymph node on the opposite side. It gradually subsided with the continuation of therapy orally with a combination of cotrimoxazole and doxycycline for six months. A repeat computed tomography chest scan showed resolution of the mediastinal mass. CONCLUSION: Melioidosis can present as a mediastinal mass that mimics tuberculosis or malignancy. During the initial phase of treatment of melioidosis, the appearance of new lymph nodes or an increase in the size of the existing lymph nodes does not mean treatment failure. Inexperienced clinicians may consider this as treatment failure and may switch treatment. To the best of our knowledge, this is the first report documenting this phenomenon in melioidosis cases.
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Salmonellosis is a common infection in systemic lupus erythematosus patients. The present study reports on two such cases of Salmonella typhimurium septic arthritis among the 102 patients seen during a four-year period.
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Artritis Infecciosa/microbiología , Articulación de la Cadera/microbiología , Lupus Eritematoso Sistémico/complicaciones , Infecciones por Salmonella/complicaciones , Salmonella typhimurium/aislamiento & purificación , Adulto , Artritis Infecciosa/diagnóstico , Femenino , Humanos , Infecciones por Salmonella/microbiología , Adulto JovenRESUMEN
Melioidosis has recently gained the status of an emerging disease in India. Multidrug-resistant (MDR) Gram-negative bacteria, however, are already responsible for treatment failure and mortality. In addition, pandrug-resistant (PDR) Gram-negative bacteria have emerged as a new threat to modern medicine. The treatment, clinical follow up, and outcome of 25 patients with melioidosis and 46 patients with MDR non-fermenters (Pseudomonas aeruginosa and Acinetobacter spp.) infection were documented during the period 2005 2007. Pandrug resistance status of the MDR strains was evaluated with the minimum inhibitory concentration breakpoint of colistin. Skin and soft-tissue involvement (16%), liver abscess (16%) and bone and joint involvement (16%) were the most common presentations of melioidosis in diabetic patients. The presence of septicaemia (44%) and major organ failure (48%) resulted in death. Relapse was seen in patients with inappropriate treatment. Clinical cure was observed in five cases infected with PDR strains; colistin was used in only one case. Comorbid conditions may have contributed to the high fatality (82.7%). More awareness among clinicians and laboratory staff, and environmental investigations of soil are required for accurate diagnosis and prompt treatment of melioidosis. For MDR strains, colistin is the 'last resort' and should be used with caution; resistance should be monitored both globally and locally.