ABSTRACT
BACKGROUND: TB is commonly categorised as pulmonary (PTB) or extrapulmonary TB (EPTB). Knowledge of TB disease patterns (PTB and/or EPTB) and determining risk factors remains limited.METHODS: This was a prospective cohort study using point-of-care ultrasound (POCUS) in Indian patients with presumed TB. Clinical and imaging data were used to develop refined case definitions for PTB, concurrent PTB and EPTB (PTB + EPTB) and EPTB without PTB (EPTB). These groups were analysed by HIV (HIV+/-) and diabetes mellitus (DM+/-) status.RESULTS: Of 172 HIV-/DM- patients with TB, 48% had PTB, 23% PTB + EPTB and 29% had EPTB, totalling 52% with any EPTB (PTB + EPTB or EPTB). In HIV+/DM- patients with TB (n = 35), 6% had PTB, 40% had PTB + EPTB and 54% had EPTB, accounting for 94% with EPTB. In HIV-/DM+ patients with TB (n = 61), 61% had PTB, 28% had PTB + EPTB and 11% had EPTB, representing 39% with EPTB.CONCLUSION: Refined case definitions revealed high proportions of EPTB even without HIV or DM. HIV further altered the TB disease pattern towards EPTB and DM towards PTB. Therefore, the dichotomy between PTB or EPTB does not represent the actual spectrum of TB disease. EPTB should receive higher priority in research and clinical practice.
Subject(s)
Diabetes Mellitus , HIV Infections , Tuberculosis , Diabetes Mellitus/epidemiology , HIV Infections/complications , HIV Infections/epidemiology , Humans , Prospective Studies , Risk Factors , Tuberculosis/epidemiologyABSTRACT
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52.
Subject(s)
Bone and Bones/abnormalities , Carrier Proteins/genetics , Ciliopathies/genetics , Craniosynostoses/genetics , Ectodermal Dysplasia/genetics , Microtubule-Associated Proteins/genetics , Mutation/genetics , Bone and Bones/physiopathology , Child, Preschool , Cilia/pathology , Ciliopathies/physiopathology , Craniosynostoses/physiopathology , Ectodermal Dysplasia/physiopathology , Exome/genetics , Female , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Intracellular Signaling Peptides and Proteins , PhenotypeABSTRACT
STUDY DESIGN: Retrospective study. OBJECTIVES: We aimed to correlate the spinal cord changes as depicted by magnetic resonance imaging (MRI) with the neurological deficit and motor recovery of patients with acute cervical spinal cord injury (SCI). SETTING: A total of 57 patients with acute cervical spine trauma who presented to the Department of Radio Diagnosis, Kasturba Medical College Manipal, Karnataka, India, over a period of 5 years (August 2002 to September 2007) were studied. METHODS: The pattern and extent of spinal cord changes on MRI were compared with the American Spinal Injury Association (ASIA) grade, motor index score (MIS) and the total number of useful muscles in the extremities on admission (ADM) and follow-up. The differences in the recovery rates (RR) among patients with cord edema (EDE), contusion and hemorrhage (HGE) were tested statistically. RESULTS: Spinal cord edema was associated with a better neurological outcome than contusion or hemorrhage, and its overall length showed a negative correlation with the recovery rate (P=0.001). CONCLUSION: MRI is invaluable in evaluating cervical SCI. Cord edema is associated with a better neurological outcome when compared with cord contusion or hemorrhage.
