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1.
Parallel to the inactivation of the X chromosome in somatic cells of female, the male X in mammals is rendered inactive during spermatogenesis. Pseudoautosomal genes, those present on the X-Y meiotically pairable region of male, escape inactivation in female soma. It is suggested, but not demonstrated, that they may also be refractory to the inactivation signal in male germ cells. We have assayed activity of the enzyme steroid sulfatase, product of a pseudoautosomal gene, in testicular cells of the mouse and shown its presence in premeiotic, meiotic (pachytene), and postmeiotic (spermatid) cell types. It appears that, as in females, pseudoautosomal genes may escape inactivation in male germ cells also. 相似文献
2.
Das P Hai M Elcock C Leal SM Brown DT Brook AH Patel PI 《American journal of medical genetics. Part A》2003,(1):35-42
We describe the molecular analysis of three families with hypodontia involving primarily molar teeth and report two novel mutational mechanisms. Linkage analysis of two large families revealed that the hypodontia was linked to the PAX9 locus. These two families revealed missense mutations consisting of a glutamic acid substitution for lysine and a proline substitution for leucine within the paired domain of PAX9. A pair of identical twins affected with hypodontia in a third family demonstrated a 288-bp insertion within exon 2 that resulted in a putative frameshift mutation and a premature stop codon. The insertion was associated with the loss of 7-bp from exon 2. A block of 256-bp of sequence within the insertion was completely identical to downstream sequence from the second intron of the PAX9 gene. These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations. 相似文献
3.
Nobuo Baba MD Takashi Suzuki MD Takayoshi Tobe MD Kazutomo Inoue MD Parimal Chowdhury PhD Louis W. Chang PhD Phillip L. Rayford PhD 《Digestive diseases and sciences》1986,31(11):1233-1241
Obstructive jaundice was produced in rats by ligation and transection of bile duct outside the liver; the control group underwent laparotomy alone. Pancreatic wet weight, amylase, lipase, protein, DNA, RNA, RNA/DNA ratio, and weight/100 g DNA were significantly increased in jaundiced rats when compared to control rats. Histologic evaluation of pancreatic tissue obtained from jaundiced rats revealed the appearance of large or multiple nuclei in pancreatic acinar cells. Basal plasma levels of immunoreactive CCK were significantly increased in haundiced rats at two weeks and four weeks but, when compared to the levels obtained in laparotomized controls at those time intervals, CCK levels were not significantly different. In jaundiced rats, plasma immunoreactive gastrin was found to be significantly decreased at two and four weeks. Plasma gastrin levels were also found significantly decreased when the jaundiced group was compared with laparotomized control group. The results suggest that obstructive jaundice induced enlargement of the pancreas, probably due to hyperplasia and hypertrophy of pancreatic cells. Whether or not this phenomenon is related to changes in gastrin and CCK is not known.This work was presented in part at the 36th Kinki Section Meeting of Japanese Gastroenterological Association (January 1982) in Osaka, Japan; at the Annual Meeting of the Japanese Pancreatic Association (March 1982) in Hiroshima, Japan; and at the American Gastroenterological Association (May 1983) in Washington, D.C.; and appeared in abstract form inGastroenterology 84: 1095, 1983. 相似文献
4.
Congenital constriction band syndrome has varied clinical presentations ranging from small, incomplete skin deep constriction band to in utero amputation. Pseudarthrosis of underlying bone most commonly tibia has been reported by many authors. We report the first case of congenital pseudarthrosis of the femur with congenital constriction band syndrome. Nine-day-old female presented with the constriction band in the left thigh with open pseudarthrosis of the femur. The left femur had gross recurvatum deformity and the posterior apex of the pseudarthrosis was exposed via skin ulceration. She had an ipsilateral paralytic clubfoot. She was treated with single-stage excision of constriction band and Z-plasty. Spontaneous union of the femur was achieved at 3 months. Procurvatum deformity of the femur improved gradually over 3 years. This happens to be the first and only reported case of congenital pseudarthrosis of the femur with sciatic nerve palsy due to congenital constriction band. 相似文献
5.
Kumaragurubaran?KarthikEmail authorView authors OrcID profile Ramalingam?Mahaprabhu Parimal?Roy Muthusamy?Raman 《Proceedings of the National Academy of Sciences, India. Section B.》2018,88(4):1409-1412
An investigation was carried out in an organized dairy farm of Tamil Nadu State, India where cattle were reported to have eye infection. Preliminary clinical intervention revealed that the animals had infectious bovine keratoconjunctivitis (IBK). Isolation and identification of pathogen from eye swab revealed the presence of Moraxella spp. On further molecular characterization by Polymerase chain reaction (PCR) suggested that the isolate as Moraxella bovoculi. PCR followed by sequencing was carried and the results showed that the isolate was M. bovoculi and the sequence was submitted in the GenBank with the sequence id. KX121047. Animals were treated with antibiotics as per the results from antibiotic sensitivity test and treatment yielded good results as the animals responded to treatment. This report is the first of its kind from India as there was no previous report regarding M. bovoculi from the country. Further insights into the bacterial genome can aid in identification of the genes or regions involved in pathogenesis of IBK and also to carve out the prevention and control strategies of IBK. 相似文献
6.
Mahesh N. Belhekar Sarayu Pai Parimal Tayade Pradip Dalwadi Renuka Munshi Prema Varthakavi 《Indian journal of pharmacology》2015,47(2):227-229
Insulin is an important agent for the treatment of diabetes mellitus (DM). Allergic reactions to insulin therapy, although rare, have been evident since animal insulin became available for the treatment of DM in 1922. Hypersensitivity to insulin has considerably been reduced with the introduction of human insulin produced by recombinant deoxyribonucleic acid technology. Here, we present a case of Type 2 DM who demonstrated immediate (Type 1) hypersensitivity reaction on the sites of subcutaneous injection of soluble and isophane insulin but insulin glargine was tolerated well and provided good glycemic control.KEY WORDS: Allergic reaction, diabetes mellitus, hypersensitivity, insulin 相似文献
7.
Expression of an anti‐RNA autoantibody in a mouse model of SLE increases neutrophil and monocyte numbers as well as IFN‐I expression 下载免费PDF全文
Jin‐Hwan Han Benjamin R. Umiker Anastasia A. Kazimirova Michael Fray Parimal Korgaonkar Erik Selsing Thereza Imanishi‐Kari 《European journal of immunology》2014,44(1):215-226
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of antinucleic acid autoantibodies, high levels of circulating type I interferon (IFN‐I), and an IFN‐I‐dependent elevated expression of activating FcγR. Increases in neutrophils and monocytes are often observed in clinical SLE, but how these contribute to autoantibody and IFN‐I production is poorly understood. Here, we analyzed SLE pathogenesis in 564Igi mice, an SLE‐model strain carrying gene‐targeted heavy and light chain antibody genes encoding an anti‐RNA autoantibody in a C57BL/6 background. Similar to human SLE patients, 564Igi mice produce anti‐RNA autoantibodies and expanded neutrophil and monocyte populations. These myeloid cells produced IFN‐I and exhibit increased FcγRIV expression induced via an IFN‐I autocrine loop. A direct effect of IFN‐I on 564Igi BM B cells and neutrophils was supported by their upregulation of “IFN‐I signature genes”. In addition, 564Igi developing B cells showed upregulated TLR7 resulting in IgG2a/2b class switch recombination and autoantibody production. Our results indicate that the production of anti‐RNA autoantibody is sufficient to induce an increase of BM, blood, and spleen IFN‐I‐producing neutrophils, and suggest a mechanism by which autoantibody and IFN‐I contribute to SLE by activating B lymphocytes, neutrophils, and monocyte effector cells in vivo. 相似文献
8.
Hrishabh Jaiswal Narendra Patidar Chintan Shah Rukmendra Singh Elesh Jain Parimal Piyush 《Indian journal of ophthalmology》2021,69(5):1155
Purpose:To study topical timolol (0.5%) as a first-line treatment in ophthalmic pyogenic granuloma (PG) in terms of safety and efficacy.Methods:This was a prospective, interventional, single-arm study conducted at a tertiary eye care hospital in central India. Only new cases of PG were counseled to get enrolled in the study. A total of 40 patients were analyzed in the study. Topical timolol eye drop (0.5%) was started in each patient twice daily for 4–6 weeks duration. The patients were divided into five categories according to the percentage reduction in the size of PG as follows: i) 80–100% reduction - excellent responders, ii) 60–80% – good, iii) 40–60% – satisfactory, iv) 20–40% – poor, and v) <20% – very poor/nonresponder. After 6 months of starting treatment final evaluation was done.Results:The mean age of the patients was 23.5 ± 13.3 years. Etiology of the disease included chalazion (n = 11, 27.5%), trauma (n = 2, 5%), surgery (n = 7, 17.5%), foreign body (n = 2, 5%), and idiopathic (n = 18, 45%). An excellent response was achieved in 31 (77.5%) patients. Twenty-seven (67.5%) patients had complete resolution of lesions within 6 weeks. Recurrence of the lesion was not noticed in any patients.Conclusion:Timolol 0.5% in topical form is a good treatment option for ophthalmic PG in all age groups. The treatment has no adverse effects when given to suitable individuals for a limited period. 相似文献
9.
Tanumoy Dhawa Ananta Hazra Arpita Barma Kunal Pal Parimal Karmakar Partha Roy 《RSC advances》2020,10(26):15501
Two compounds, namely, 2-hydroxy-5-methyl-3-((pyridin-2-ylimino)methyl)benzaldehyde (HM-2py-B) and 2-hydroxy-5-methyl-3-((pyridin-3-ylimino)methyl)benzaldehyde (HM-3py-B), have been explored as fluorescent chemosensors for pH. HM-2py-B and HM-3py-B were synthesized by single step condensation reaction between 4-methyl-2,6-diformylphenol and the appropriate aminopyridine. These compounds have been characterized by elemental analysis, FT-IR, 1H NMR, 13C NMR, ESI mass spectrometry, and absorption and fluorescence spectroscopy. Their structures have been confirmed by single crystal X-ray diffraction analysis. Both of the compounds show low emission at 530 nm at low pH. Fluorescence intensity increases with the increase in pH. With the alteration in pH of the medium from 4.0 to 10.0, the fluorescence intensity at 530 nm enhances by 66 and 195 fold for HM-2py-B and HM-3py-B, respectively. pKa values of HM-2py-B and HM-3py-B have been determined to be 7.15 and 6.57, respectively. Fluorescence increase occurs mainly due to deprotonation of the phenolic OH group. Several cations and anions could not induce significant change in fluorescence behavior for both of the probes. The quantum yield and life-time enhance significantly when the pH of the medium is changed from 5.0 to 9.0. Naked eye identification of different pH environments is possible by using these compounds. Some theoretical calculations have been carried out to support experimentally obtained spectral transitions. As cancer cell has a pH in the range of 5.5–7.0 in comparison to normal cell pH of 7.4, these probes have been used effectively to discriminate between normal cells and cancer cells.Two 4-methyl-2,6-diformylphenol based compounds with pyridylamine have been established as chemosensors for pH. The probes are able to differentiate between normal cells and cancer cells. 相似文献
10.