ABSTRACT
We present a case of ectopia cilia in a 28‑year‑old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient’s maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient’s mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis.
Subject(s)
Adult , Cilia/epidemiology , Cilia/genetics , Dermoid Cyst , Eyelid Diseases/complications , Eyelid Diseases/genetics , Humans , Male , Mothers , Pedigree , TrichiasisABSTRACT
We present a case of seven nipples in a 32-year-old male patient. The patient had two regular nipples along with five supernumerary nipples. Usually, supernumerary nipples develop along the two vertical "milk lines" which start in the arm pit on each side, run down through the typical nipples, and end at the groin. Our patient had six nipples which confirm to the "milk lines" and one nipple which was above the umbilicus in the midline and did not confirm to the "milk lines." To our knowledge, this is the second case report with seven nipples in the world.
ABSTRACT
Familial atrophia maculosa varioliformis cutis is a very rare disorder with less than 28 cases being reported in the literature worldwide and remains a mystery both as far as genetics and the virtue of its pathogenesis is concerned. We present a case of mother and son, both having this disorder with presentations unique in terms of sites involved and try to draw a five generations pedigree chart for the same. We further support its inheritance pattern as autosomal dominant. Also, we propose oral isotretinoin as an effective treatment modality for the same.
ABSTRACT
We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype.
Subject(s)
Aged , Bone Marrow Cells/cytology , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 13/genetics , Humans , Lymphocytes/blood , Lymphocytes/cytology , India/epidemiology , In Situ Hybridization, Fluorescence/methods , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Male , Trisomy/geneticsABSTRACT
t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), specifically in FAB-M2. Short-term unstimulated bone marrow (BM) and peripheral blood lymphocyte culture showed 47,XX, +4,t(8;21) in all metaphase plates; and interphase and metaphase results of AML-ETO fusion was positive and trisomy of 4 was confirmed with WCP probes. Trisomy 4 in AML with t(8;21) is a rare numerical abnormality. Here we present such case of patient which may constitute a distinctive subtype.
ABSTRACT
We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. The small meta-centric marker chromosome was identified as i(18p) with m-FISH followed by m-BAND. Parents and a normal sibling of the proband revealed normal karyotype. There was history of mental retardation and dysmorphic features in four cases on paternal side; however, their karyotype was also normal.
Subject(s)
Abnormalities, Multiple , Child, Preschool , Chromosome Aberrations , Chromosome Banding , Chromosomes, Human, Pair 18/genetics , Developmental Disabilities/genetics , Female , Genetic Predisposition to Disease , Humans , In Situ Hybridization, Fluorescence , Infant , Isochromosomes , Intellectual Disability/geneticsABSTRACT
We describe here the first case of Salmonella paratyphi A bacteremia associated with deep vein thrombosis in a 10-year-old patient. In spite of aggressive antibiotic therapy and supportive care, the patient died of progressive respiratory distress and septic shock. Awareness of unusual clinical presentation of Salmonella infection in important. A review of the previously reported cases of Salmonella associated venous thrombosis worldwide is also presented.
Subject(s)
Child , Humans , Male , Salmonella/isolation & purification , Salmonella Infections/complications , Venous Thrombosis/etiologyABSTRACT
Hypertension is a very common and important disease of modern civilised life. There are comflicting reports about cadmium, a trace element in the genesis of essential hypertension. The present study was conducted to estimate the cadmium levels in whole blood in the normal group of thirty subjects who were normotensive and the same was compared to that of thirty hypertensive patients and the levels were found to be statistically significant (p < 0.05).
Subject(s)
Adult , Aged , Cadmium/adverse effects , Cadmium Poisoning/blood , Female , Humans , Hypertension/blood , Male , Middle Aged , Risk FactorsSubject(s)
Diagnosis, Differential , Female , Humans , Neurilemmoma/diagnosis , Tracheal Neoplasms/diagnosisABSTRACT
Ischemic events have been reported to follow a circadian rhythm. The frequency of myocardial infarction is found to be increased between 6:01 a.m. and 2:00 p.m. Blood pressure also demonstrates a similar circadian variation. Circadian variation of stroke onset has also been reported, but with contradictory findings. To determine this in the Indian population, we studied 182 consecutive patients of acute stroke admitted to our words within twelve hours of onset. The frequency of onset of stroke was found to be highest between 6:01 am and 2:00 pm, in patients of infarct as well as haemorrhage. Patients of hypertension also showed a similar variation. Thus, the identification of periods of high risk, may help by matching drug doses with periods of vulnerability.
Subject(s)
Acute Disease , Adult , Aged , Aged, 80 and over , Cerebrovascular Disorders , Circadian Rhythm , Female , Humans , Male , Middle Aged , Time FactorsABSTRACT
Surgical method of embryo collection and embryo transfer was used in rabbit. PMSG was used for superovulation. Out of the 41 embryos collected from 6 donors, 30 embryos were transferred in 7 recipients. Out of 7 embryo transferred recipients, 2 kidded giving birth to 7 kids.
Subject(s)
Animal Husbandry/methods , Animals , Embryo Transfer/veterinary , Female , Male , PregnancyABSTRACT
Porencephalic cyst with seizure is rare. It represents a part of diffuse cerebral maldevelopment. Porencephaly occurs as a result of imbalance between brain growth and its vascular supply and is picked up by CT scan.
Subject(s)
Adult , Brain/abnormalities , Brain Diseases/pathology , Cerebral Infarction/pathology , Cerebral Ventricles/pathology , Cysts/pathology , Epilepsy, Generalized/pathology , Female , HumansABSTRACT
A woman with history of bifrontal headache, vomiting and loss of vision was diagnosed as a case of pseudotumor cerebri based on clinical and MRI findings. Bilateral abducens and facial nerve palsies were detected. Pseudotumor cerebri in this patient was not associated with any other illness or related to drug therapy. Treatment was given to lower the raised intracranial pressure to which the patient responded.