RESUMO
Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. These symptoms together were not explained by the differentials taken into account. She presented before puberty with no family history of such conditions, while being born of consanguineous marriage. Her symptoms along with urinary porphobilinogen positivity test helped to reach the diagnosis of AIP in the absence of cutaneous manifestations. This case highlights the variable presentation of porphyria and emphasises the importance of appropriate and timely diagnosis and management in these patients.
Assuntos
Hipertensão , Porfiria Aguda Intermitente , Porfirias , Humanos , Feminino , Criança , Porfiria Aguda Intermitente/complicações , Porfiria Aguda Intermitente/diagnóstico , Porfirias/diagnóstico , Convulsões/etiologia , Dor Abdominal/etiologia , Hipertensão/etiologia , Quadriplegia/etiologiaRESUMO
Idiopathic pulmonary haemosiderosis is a rare disorder, with recurrent life-threatening alveolar haemorrhages and chronic lung parenchymal changes. It is associated with a triad of haemoptysis, iron deficiency anaemia, and diffuse pulmonary infiltrates. Although most cases are idiopathic, secondary haemosiderosis linked to known diseases has also been observed. Most of the cases remain undiagnosed because the disease is very low on the list of differentials. There is no specified age for the disease. The present study reports on an adolescent female patient who presented with microcytic anaemia and bilateral lung infiltrates to the National Institute of Child Health (NICH), Karachi, a tertiary care hospital. She was diagnosed with Idiopathic pulmonary haemosiderosis after ruling out other possibilities.
Assuntos
Anemia Hipocrômica , Anemia Ferropriva , Anemia , Hemossiderose , Adolescente , Criança , Feminino , Humanos , Hemossiderose/complicações , Hemossiderose/diagnóstico , Anemia/etiologia , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/etiologiaRESUMO
Hamman's syndrome is a rare clinical entity that presents with spontaneous pneumomediastinum and subcutaneous emphysema. It is most commonly diagnosed in young men and pregnant women, and is rare in children. We report the case of a female toddler who presented to an emergency department with fever, cough and shortness of breath. Imaging studies revealed subcutaneous emphysema and pneumomediastinum. The patient was diagnosed with Hamman's syndrome after ruling out other possibilities. We discuss the underlying mechanisms of the disease, the diagnostic criteria and the treatment options. The purpose of this case report is to improve clinicians' awareness of the existence of this rare clinical entity in paediatric patients.
Assuntos
Enfisema Mediastínico , Enfisema Subcutâneo , Gravidez , Masculino , Humanos , Criança , Feminino , Enfisema Mediastínico/complicações , Enfisema Mediastínico/diagnóstico por imagem , Enfisema Subcutâneo/diagnóstico por imagem , Enfisema Subcutâneo/etiologia , Tosse , Dispneia , Serviço Hospitalar de Emergência , SíndromeRESUMO
Over the past few decades, the amount of ultraviolet-B radiation (UV-B) reaching the earth's surface has been altered due to climate change and stratospheric ozone dynamics. This narrow but highly biologically active spectrum of light (280-320 nm) can affect plant growth and development. Depletion of ozone and climate change are interlinked in a very complicated manner, i.e., significantly contributing to each other. The interaction of climate change, ozone depletion, and changes in UV-B radiation negatively affects the growth, development, and yield of plants. Furthermore, this interaction will become more complex in the coming years. The ozone layer reduction is paving a path for UV-B radiation to impact the surface of the earth and interfere with the plant's normal life by negatively affecting the plant's morphology and physiology. The nature and degree of the future response of the agricultural ecosystem to the decreasing or increasing UV-B radiation in the background of climate change and ozone dynamics are still unclear. In this regard, this review aims to elucidate the effects of enhanced UV-B radiation reaching the earth's surface due to the depletion of the ozone layer on plants' physiology and the performance of major cereals.
RESUMO
BACKGROUND: Acute kidney injury (AKI) is known to complicate one-third of cases in pediatric intensive care units (PICU), and almost one-fourth of these are due to nephrotoxic drugs (NTDs). Although stopping NTDs seems the most obvious option, it is not practically applicable. Many NTDs are the only existing option, and their potential benefits outweigh the risk of drug-induced AKI. OBJECTIVES: To assess the proportion of children receiving NTDs in the PICU and highlight the children who developed AKI. METHODS: A prospective observational study was conducted in the PICU of the National Institute of Child Health, Karachi. All children admitted to the PICU for at least 72 hours not diagnosed with any acute or chronic kidney disease were included. Serum creatinine (SCr) was done at admission and then after 72 hours. Data was entered and analyzed using IBM Corp. Released 2013. IBM SPSS Statistics for Windows, Version 22.0. Armonk, NY: IBM Corp. RESULTS: Of 99 children, 53 (53.5%) were male. NTD exposure was positive in 97 (97.9%), and 72 (72.7%) had high exposure (≥3 NTDs). Drug-induced AKI was diagnosed in 46 (46.5%). It was significantly related to high SCr even at admission and high NTDs exposure. The mortality rate in the AKI group was 17% compared to 4% in the non-AKI (p=0.02). CONCLUSION: Almost half of all PICU admissions were infants. Almost all patients were exposed to NTDs, and three-fourth experienced high exposure. AKI developed in 46% of patients and may be predicted by raised creatinine at the time of admission. Children exposed to ≥3 NTDs had a higher chance of drug-induced AKI.
RESUMO
OBJECTIVE: To measure the correlation between the ratio of oxygen saturation to fraction of inspired oxygen [SpO2/FiO2 (SF)] and the ratio of partial pressure of oxygen to fraction of inspired oxygen [PaO2/FiO2 (PF)] among children diagnosed with acute respiratory distress syndrome (ARDS). METHODOLOGY: A cross-sectional study was conducted at the pediatric intensive care unit (PICU), National Institute of Child Health (NICH), Karachi, a tertiary care government hospital, from November 2020 to July 2021. One hundred twenty children (of either gender) having the age range of 2 months to 16 years, admitted to PICU with acute onset of respiratory distress, were included in the study. We measured SpO2, PaO2, FiO2 and calculated SF and PF ratios. SPSS (version 23) (Armonk, NY: IBM Corp) was used to analyze data, and the Spearmen's correlation test was applied to measure the relationship between SF and PF ratios. RESULTS: A total of 120 children were included, the mean age was 40.58±38.88 months and 67 (55.8%) were males. The mean FiO2 was 76.33%, the mean PaO2 and SpO2 were 100.35 mmHg and 94.37%, respectively. The mean PF ratio was 156.34, and the mean SF ratio was 156.45. There was a strong correlation between the SF ratio and the PF ratio (r=0.688; p=0.001). CONCLUSION: This study has shown that there is a strong correlation between the SF and PF ratios, and a statistically substantial agreement has been observed.
RESUMO
Autosomal recessive primary microcephaly (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-severe mental retardation. Autosomal recessive primary microcephaly is genetically heterogeneous and 7 loci have been reported to date. Mutations in ASPM (abnormal spindle-like, microcephaly associated) gene are the most common cause of autosomal recessive primary microcephaly in the majority of the reported families. In the current investigation, we have located and studied 21 families with autosomal recessive primary microcephaly. Genotyping using polymorphic microsatellite markers linked to 7 autosomal recessive primary microcephaly loci revealed linkage of 18 families to the MCPH5 locus. Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C>T/p.Q701X; c.9492T>G/p.Y3164X) in 2 families and 2 novel deletion mutations (c.6686delGAAA/p.R2229TfsX9; c.77delG/p.G26AfsX41) in 2 other families. Three previously described mutations (c.3978G>A/p.W1326X; c.1260delTCAAGTC/p.S420SfsX32; c.9159delA/p.K3053NfsX4) were also detected in 11 families. These identified mutations extended the body of evidence implicating the ASPM gene in the pathogenesis of human hereditary primary microcephaly.