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1.
Eye (Lond) ; 32(1): 152-155, 2018 01.
Article in English | MEDLINE | ID: mdl-28776595

ABSTRACT

ObjectiveTo report the role of intralesional bleomycin as sole or adjunct therapy in the management of superficial ocular adnexal lymphatic malformations.DesignRetrospective study.ParticipantsThree patients/three eyes.MethodsRetrospective chart analysis of patients receiving intralesional bleomycin sclerotherapy as sole or adjunctive treatment for superficial ocular adnexal lymphatic malformations at a single tertiary level eye care institution.ResultsDegree of clinical regression of the lesions (graded by percentage) and resolution of symptoms and signs associated with the lesions.ConclusionsUse of intralesional bleomycin sclerotherapy appears to be an effective sole or adjunct treatment in the management of superficial ocular adnexal lymphatic malformations.


Subject(s)
Bleomycin/administration & dosage , Eye/blood supply , Lymphatic Abnormalities/therapy , Sclerotherapy/methods , Adolescent , Adult , Antibiotics, Antineoplastic/administration & dosage , Child, Preschool , Female , Humans , Injections, Intralesional , Lymphatic Abnormalities/diagnosis , Male , Retrospective Studies , Tomography, X-Ray Computed , Treatment Outcome , Vascular Malformations/therapy
2.
Nanoscale ; 8(36): 16499-510, 2016 Sep 28.
Article in English | MEDLINE | ID: mdl-27604569

ABSTRACT

Stress and strain in thin films of Pr0.1Ce0.9O2-δ, supported on yttria stabilized zirconia (YSZ) and sapphire substrates, induced by large deviations from oxygen stoichiometry (δ = 0) were investigated by in situ high temperature X-ray diffraction and wafer curvature studies. The measured stresses and strains were correlated with change in δ, measured in situ using optical transmission spectroscopy of defect centers in the films and compared with prior chemical capacitance studies. The coefficient of chemical expansion and elastic modulus values for the films were found to be 18% less than, and 16% greater than in the bulk, respectively. Irreproducible stress and strain during cycling on YSZ substrates was observed and related to microstructural changes as observed by TEM. The enthalpy of defect formation was found to be similar for films supported on sapphire and YSZ, and appeared to decrease with tensile stress, and increase with compressive stress. Larger stresses observed for YSZ supported films as compared to sapphire supported films were found and accounted for by the difference in film orientations.

4.
J Clin Dent ; 26(3): 76-9, 2015.
Article in English | MEDLINE | ID: mdl-26665290

ABSTRACT

OBJECTIVE: This randomized, controlled clinical trial was conducted to assess the extrinsic stain reduction achieved by brushing with a whitening dentifrice and powered toothbrush, and to determine whether the addition of a whitening booster paste to this regimen would enhance its stain reducing effectiveness. METHODS: Sixty qualifying subjects were randomly assigned either to Regimen One, a whitening dentifrice (Arm & Hammer Truly Radiant [TR] toothpaste] and powered toothbrush (Arm & Hammer Truly Radiant [TR] Extra Whitening Spinbrush); Regimen Two, the dentifrice and powered toothbrush with the addition of a whitening booster; or Regimen Three, a negative control (Colgate Cavity Protection toothpaste and an ADA standard manual brush). They were instructed in the use of their assigned products and then brushed unsupervised at home for two minutes, twice daily, for 14 days. Extrinsic tooth stain was assessed at baseline and after two, five, and 14 days using a Modified Lobene Stain Index (MLSI) with Lobene inclusion criteria of ≥ 1.5. RESULTS: All three treatment groups had statistically significant (p < 0.0001) mean total MLSI reductions from baseline at each time point, in a time-dependent manner. Day 14 reductions were 22.2% for Colgate Cavity Protection, 29.1% for Regimen One, and 34.4% for Regimen Two. Reductions for Regimen One and Regimen Two were significantly greater compared to Regimen Three, the negative control, at each time period (p < 0.01), and those for Regimen Two were significantly greater compared to Regimen One on days 2 and 14 (p < 0.05) and directionally more effective on day 5 (p = 0.0673). CONCLUSION: The combination of Truly Radiant toothpaste and Truly Radiant Spinbrush provides safe and effective stain removal that can be further enhanced by the addition of the whitening booster.


Subject(s)
Dentifrices/therapeutic use , Tooth Bleaching Agents/therapeutic use , Tooth Discoloration/drug therapy , Toothbrushing/instrumentation , Toothpastes/therapeutic use , Adolescent , Adult , Aged , Calcium Phosphates/therapeutic use , Female , Follow-Up Studies , Humans , Male , Middle Aged , Peroxides/therapeutic use , Prospective Studies , Safety , Silicon Dioxide/therapeutic use , Single-Blind Method , Sodium Bicarbonate/therapeutic use , Sodium Fluoride/therapeutic use , Tooth Discoloration/classification , Treatment Outcome , Young Adult
6.
Open Ophthalmol J ; 7: 4-10, 2013.
Article in English | MEDLINE | ID: mdl-23459241

ABSTRACT

Diabetic retinopathy remains the leading vascular-associated cause of blindness throughout the world. Its treatment requires a multidisciplinary interventional approach at both systemic and local levels. Current management includes laser photocoagulation, intravitreal steroids, and anti-vascular endothelial growth factor (VEGF) treatment along with systemic blood sugar control. Anti-VEGF therapies, which are less destructive and safer than laser treatments, are being explored as primary therapy for the management of vision-threatening complications of diabetic retinopathy such as diabetic macular edema (DME). This review provides comprehensive information related to VEGF and describes its role in the pathogenesis of diabetic retinopathy, and in addition, examines the mechanisms of action for different antiangiogenic agents in relation to the management of this disease. Medline (Pubmed) searches were carried out with keywords "VEGF", "diabetic retinopathy", and "diabetes" without any year limitation to review relevant manuscripts used for this article.

7.
Case Rep Genet ; 2012: 878796, 2012.
Article in English | MEDLINE | ID: mdl-23227376

ABSTRACT

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently "normal" karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).

8.
Intensive Care Med ; 38(11): 1851-7, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23011533

ABSTRACT

BACKGROUND AND AIMS: Airway evaluation following infant cardiac surgery often reveals evidence of tracheobronchial narrowing. We studied the association between airway narrowing and extubation failure (EF) in this population. METHODS: Prospective cohort study of infants (age ≤6 months) from March-September 2009. Flexible bronchoscopy (FB) evaluations were obtained using a standardised protocol after operative intervention. The primary endpoint was the development of extubation failure (EF; defined as the need for invasive mechanical ventilation ≤48 h after primary extubation) and several secondary endpoints. RESULTS: Fifty-three patients were evaluated at a median age of 81 [interquartile range (IQR) 13-164] days and weight of 4.2 (IQR 3.2-6.0) kg; 13 (25 %) of the patients had single ventricle palliations and two subsequently underwent heart transplantation. Significant airway narrowing was noted in 15 of 30 [50 %, 95 % confidence interval (CI) 31-69 %] patients who underwent FB; ten of the 53 patients (19 %, 95 %CI 10-32 %) subsequently developed EF. Narrowed airway calibre on bronchoscopy had a sensitivity and specificity of 50 % (95 %CI 28-71 %) and 50 % (95 %CI 28-71 %), respectively, for EF. The single greatest predictor of EF by univariate analysis was the need for preoperative ventilation [odds ratio (OR) 6.5, 95 %CI 1.3-33.2, p = 0.03]. Patients with EF had a greater likelihood of intensive care readmission (OR 4.8, 95 %CI 1.1-21, p < 0.04) during the same hospital admission. CONCLUSIONS: Airway narrowing on FB is noted frequently after infant cardiac surgery. Overall assessment and presence of narrowing on bronchoscopy had poor sensitivity and specificity for EF in our cohort. Expert assessment of tracheobronchial narrowing on FB has poor to moderate inter-rater reliability.


Subject(s)
Airway Extubation , Airway Obstruction/diagnosis , Bronchoscopy , Heart Defects, Congenital/surgery , Postoperative Complications/diagnosis , Constriction, Pathologic , Heart Defects, Congenital/therapy , Humans , Infant , Infant, Newborn , Predictive Value of Tests , Prospective Studies , Sensitivity and Specificity
9.
Asian J Neurosurg ; 7(2): 81-3, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22870157

ABSTRACT

Intramedullary dermoid cysts are rare tumors, especially those not associated with spinal dysraphism. Only six cases have been reported in the literature. Of these, only two cases have had magnetic resonance imaging studies. We report a case of an 18-year-old female patient, who presented with progressive weakness of both the lower limbs and wasting of both the upper limbs. Magnetic resonance imaging (MRI) showed an intramedullary lesion extending from C3 to D2 with peripheral enhancement on contrast. Decompression of the cystic contents with partial removal of cyst wall was done. Hair with oily cholesterol and keratin debris was encountered. Histopathology confirmed the diagnosis of dermoid cyst. This case adds to the previous reported cases of the rare and uncommon intramedullary space occupying lesions of the spinal cord.

10.
Indian Pediatr ; 49(12): 975-7, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22728628

ABSTRACT

Overlapping clinical phenotypes are a diagnostic challenge to the clinician, especially in the cases of mucolipidosis (ML) and mucopolysaccharide disorders (MPS), due to overlapping phenotypes. Present study was carried out in 147 children suspected to have ML or MPS and 100 controls. They were screened for ML II/III by colorimetric method using substrate pNCS. Six children were found screen positive for ML II/III and further confirmatory study showed significantly raised activity in plasma confirming high specificity of the ML screening test. Forty-two (28.5%) children out of remaining 141 children that were screen negative, were found to have various MPS disorders, while rest 99 had normal enzyme activity in plasma and leucocytes. Present study demonstrates prompt and specific chemical method that can be used as a tool for estimating ML II/III, with high specificity.


Subject(s)
Mucolipidoses/diagnosis , Adolescent , Biomarkers/blood , Child , Child, Preschool , Enzymes/blood , Humans , Infant , Mass Screening/methods , Mucolipidoses/blood
11.
Pediatr Transplant ; 16(1): 36-40, 2012 Feb.
Article in English | MEDLINE | ID: mdl-21981601

ABSTRACT

Following paediatric SBMT, size discrepancy between the recipient's abdomen and the graft may lead to ACS, graft dysfunction, and death. We report our experience with SAC in these patients. Between 04/1993 and 03/2009, 57 children underwent 62 SBMTs. When abdominal wall tension seemed excessive for safe PAC, SAC was performed, using a Silastic® sheet and a vacuum occlusive dressing. Transplantations with SAC (23 combined liver and small bowel [CLB]) were compared with those with PAC [14 ISB and 25 CLB]. Indications for transplantation, preoperative status (after stratification for ISB/CLB transplants), age at transplantation, donor-to-recipient weight ratio, reduction in bowel and/or liver, and incidence of wound complications were not different in both groups. Post-operative intubation, stay in intensive care unit, and hospital stay were prolonged after SAC. Two deaths were related to ACS after PAC, none after SAC. Since 2000, one-yr patient survival is 73% after ISB transplantation and 57% vs. 75% after CLB transplantation with PAC vs. SAC, respectively (NS). SAC safely reduces severe ACS after paediatric SBMT and can be combined with graft reduction for transplantation of small recipients.


Subject(s)
Abdominal Wall/surgery , Intestine, Small/transplantation , Intestines/transplantation , Intra-Abdominal Hypertension/prevention & control , Child , Child, Preschool , Digestive System Surgical Procedures/methods , Graft Survival , Humans , Intestinal Diseases/therapy , Intestine, Small/pathology , Intestines/pathology , Liver/pathology , Liver Transplantation/methods , Postoperative Complications , Time Factors , Treatment Outcome
12.
Br J Neurosurg ; 26(1): 12-5, 2012 Feb.
Article in English | MEDLINE | ID: mdl-21767123

ABSTRACT

OBJECTIVE: Anterior cervical microdiscectomy is a procedure commonly performed for degenerative cervical spine disease. However, there is still controversy regarding whether a bone graft with rigid instrument fixation is necessary following single- or two-level discectomy. We review the results of surgery in 120 patients following anterior cervical microdiscectomy without fixation over the last 22 years. METHODS AND MATERIALS: Anterior cervical microdiscectomy was performed in 120 patients using the Smith-Robinson approach in those with definite MRI evidence of radicular or spinal cord compression by 'soft' or 'hard' disc protrusions. Bone grafting and instrumentation was not done in any of the patients because there was no demonstrable instability of the cervical spine on radiography. RESULTS: Out of the 100 cases operated by the first author, 95 patients had significant improvement in their symptoms and all returned to their normal employment. Four patients required repeat surgery with bone grafting and instrumentation. Of the 20 cases operated by the second author, 19 patients had significant improvement in their symptoms and returned to normal activities. One patient required repeat surgery for a residual disc causing brachalgia. Thus, only 3.3% of the patients required bone grafting with instrumentation for segmental kyphosis and resultant radiculopathy. The remaining patients were significantly improved, and during the follow-up period over 22 years have not developed recurrences or worsening of symptoms even though bone grafting and instrumentation was not done. CONCLUSIONS: Anterior cervical microdiscectomy without bone grafting and instrumentation is a safe and effective procedure following single- and two-level discectomy for cervical disc disease, with a success rate of 97.7%. Bone grafting and instrumentation in every case following anterior cervical microdiscectomy is questionable and should only be used in a few selected cases with demonstrated instability.


Subject(s)
Cervical Vertebrae/surgery , Diskectomy/methods , Intervertebral Disc Degeneration/surgery , Microsurgery/methods , Radiculopathy/surgery , Spinal Cord Compression/surgery , Adult , Aged , Aged, 80 and over , Bone Transplantation/methods , Female , Humans , Male , Middle Aged , Pain, Postoperative/etiology , Paresthesia/etiology , Spinal Fusion/methods , Treatment Outcome , Young Adult
13.
Case Rep Pediatr ; 2011: 564868, 2011.
Article in English | MEDLINE | ID: mdl-22606518

ABSTRACT

A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of ß-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozygous status for L444P (c.1448C) in the proband, whereas parents and two elder sisters were found to be heterozygote. Prenatal study during the fourth pregnancy was carried out from cultured chorionic villi for ß-glucosidase, which was in the carrier range. Further confirmation of the carrier status was carried out from amniotic fluid DNA and was found to be heterozygous for L444P (c.1448C) in the GBA gene. This case demonstrates that children with the sign of splenomegaly with anemia and thrombocytopenia need to be screened for Gaucher disease, and molecular study can further help to confirm the heterozygous status, where prenatal study by enzyme investigation demonstrate heterozygous condition.

15.
Cytogenet Genome Res ; 125(2): 115-6, 2009.
Article in English | MEDLINE | ID: mdl-19729914

ABSTRACT

Here we report the first case of an inverted duplicated neocentric small supernumerary marker chromosome present in a karyotype 47,XX,+mar(Y). As expected a partial disomy of Ypter to Yp11.2 did not lead to any major malformations. However, the formation of an inverted duplicated chromosome from a Y chromosome is not possible by a U-type exchange, as has been suggested for such kind of neocentric marker chromosomes. Thus, some evidence is here provided that this concept might not always be true.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Y , Isochromosomes , Female , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male
16.
Indian J Pediatr ; 75(6): 567-70, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18759082

ABSTRACT

OBJECTIVE: To study occurrence of common mutations in the population of Gujarat and the most prevalent mutation in certain high-risk communities. METHODS: The mutation screening was carried out using ARMS-PCR in children with beta thalassemia. RESULTS: Population screening has identified certain communities like Sindhis, Lohana, Rajputs, and SC/ST/OBC to be at higher risk as compared to others. The most common mutation was IVS 1-5 (G-->C) followed by 619 bp deletions of the total cases coming to Gujarat. CONCLUSION: Molecular evaluation for Thalassemia should be considered for families whose ethnicity indicates origin from high-risk community.


Subject(s)
Ethnicity/genetics , Genetic Testing/statistics & numerical data , beta-Thalassemia/genetics , Alleles , DNA Mutational Analysis , Fetus , Frameshift Mutation , Humans , India/epidemiology , Point Mutation , Polymerase Chain Reaction , Prenatal Diagnosis , Prevalence , Sequence Deletion , beta-Globins/genetics , beta-Thalassemia/diagnosis , beta-Thalassemia/epidemiology
17.
Pediatr Neurosurg ; 44(1): 55-61, 2008.
Article in English | MEDLINE | ID: mdl-18097193

ABSTRACT

We describe a cervical intramedullary neurenteric cyst in a 12-year-old male patient who presented with gradual onset and progressively worsening neck pain, spastic quadriparesis and impaired sensation in the C(2) dermatome. MR imaging revealed a well-defined peripherally enhancing cystic intramedullary lesion with a posteroinferior enhancing nodule at the C(2)-C(3) level mimicking an abscess. There was no evidence of spinal dysraphism. The lesion was completely resected through a posterior approach and the patient showed radical improvement in his symptomatology. At follow-up after 3 years, he was asymptomatic and the MR imaging showed no evidence of any residual or recurrent cyst. The case presented here is unique, since a spinal neurenteric cyst showing intense peripheral contrast enhancement mimicking an abscess is unusual. The radiological features, pathogenesis and surgical considerations in cervical intramedullary neurenteric cysts are discussed and the relevant literature is briefly reviewed.


Subject(s)
Abscess/diagnosis , Cervical Vertebrae/pathology , Medulla Oblongata/pathology , Neural Tube Defects/diagnosis , Abscess/surgery , Cervical Vertebrae/abnormalities , Cervical Vertebrae/surgery , Child , Diagnosis, Differential , Humans , Male , Medulla Oblongata/abnormalities , Medulla Oblongata/surgery , Neural Tube Defects/surgery
18.
J Assoc Physicians India ; 53: 897-900, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16459536

ABSTRACT

Familial Partial Lipodystrophy, Dunnigan type (FPLD), is characterised by loss of subcutaneous fat from the limbs and an excessive accumulation of fat on the neck, shoulder girdle and face. Affected individuals have insulin resistance, dyslipidaemia and early cardiovascular events. Body composition (BC) with details of adipose tissue distribution were studied by Dual-Energy X-ray Absorptiometry (DEXA) and Magnetic Resonance Imaging (MRI) ina heterozygote for the FPLD mutation LMNA R482W, and in an age, sex and body mass index (BMI) matched normal control. DEXA revealed a marked decrease in total as well as regional fat percentage in the patient compared to a normal control. Marked reductions in subcutaneous fat in the extremities with substantial lipodeposition in the nape of the neck were confirmed with. MRI. The importance of increased perinephric, retroperitoneal and intermuscular fat in the thighs found in this patient, needs to be explored vis-à-vis the pathogenesis of insulin resistance found in FPLD.


Subject(s)
Body Composition , Diabetes Mellitus, Lipoatrophic/pathology , Absorptiometry, Photon , Adult , Female , Humans , Magnetic Resonance Imaging
19.
Indian J Cancer ; 40(4): 135-9, 2003.
Article in English | MEDLINE | ID: mdl-14716109

ABSTRACT

BACKGROUND: The technique of Fluorescence In-Situ Hybridization (FISH), a hybrid of cytogenetics and molecular biology has increased the resolution and application of cytogenetics in various neoplastic processes. In various types of leukemias, primary investigation by conventional cytogenetic [CC] technique followed by FISH has increased our understanding of the abnormal clonal formation involving different gene region. AIMS: Present study is aimed to use different kinds of in-house FISH probes in various hematological malignancies and its correlation with conventional cytogenetic finding. MATERIAL AND METHODS: Cytogenetic study was carried out in 360 patients either from peripheral blood or from bone marrow cells suspected for various types of leukemias. Four of 360 cases were further selected for FISH study by using different types of in-house probes, such as BAC [Bacterial Artificial Chromosome], PAC [Phague Artificial Chromosome], alphoid, PCP [Partial Chromosome Paint] and WCP [Whole Chromosome paint]. RESULTS: The results confirmed breakpoints of inversion 16 and del 16 in case 2 and 3 respectively. Whereas, case 1 did not confirm the cytogenetic findings of t(15;17) by PML/RARa fusion signals as multiple cell lines were involved in the patients. PCP and WCP were helpful in the identification of the marker chromosome in case 1. Telomeric and centromeric probes confirmed the cytogenetic findings of t(5;7) in case 4. CONCLUSION: We observe from this study that, in addition to the conventional cytogenetic study, FISH study provide further confirmation of chromosomal rearrangements. This facilitates our understanding of the neoplastic process more precisely for the better prognostication of the patient.


Subject(s)
Chromosome Aberrations , In Situ Hybridization, Fluorescence/methods , Leukemia, Myelomonocytic, Acute/genetics , Leukemia, Promyelocytic, Acute/genetics , Myelodysplastic Syndromes/genetics , Bone Marrow Cells/pathology , Chromosome Deletion , Chromosome Painting , Chromosomes, Artificial, Bacterial/genetics , Chromosomes, Human, Pair 15/genetics , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 17/genetics , Cytogenetic Analysis , DNA Probes , Humans , Leukemia, Myelomonocytic, Acute/pathology , Leukemia, Promyelocytic, Acute/pathology , Myelodysplastic Syndromes/pathology , Oncogene Proteins, Fusion/metabolism , Translocation, Genetic
20.
J Assoc Physicians India ; 50: 773-6, 2002 Jun.
Article in English | MEDLINE | ID: mdl-12240840

ABSTRACT

OBJECTIVE: To study clinical, endocrine and metabolic profiles in the kindred of subjects with familial partial lipodystrophy (FPLD, Dunnigan type). MATERIAL AND METHODS: Twenty two relatives (10 males, 12 females), from an extended family with FPLD, were assessed for the phenotypic features, impaired glucose tolerance (IGT)/diabetes mellitus (DM), dyslipidemia and the presence of insulin resistance. Plasma glucose and serum lipids were measured using glucose oxidase and standard colorimetric methods. Serum insulin was estimated by radioimmunoassay. RESULTS: The age was 12 to 67 years, two being adolescents. Two of the 20 adults were overweight and eight were underweight; BMI (adults) was 15.5 to 28.5. Features of FPLD were evident among eight out of 12 women. This typical phenotype was not obvious in all 10 male members. Varying degree of Hirsuitism was observed in four of 12 women, acanthosis nigricans in 11 out of 22 members and skin tags were present in only eight of 22; hypertension in six members and diabetes in four. Eleven members had either impaired glucose tolerance (IGT) (n=7), or DM (n=4). Ten of 20 members showed hyperinsulinemic response on oral glucose tolerance test (OGTT). Dyslipidemia was present in 13 family members. CONCLUSION: The majority (2/3rd) of female members showed typical phenotypic features of FPLD, with a clustering of cardiovascular risk factors and insulin resistance syndrome. More than half the men without phenotypic features of FPLD had either IGT/DM, dyslipidemia, hypertension or cardiovascular disease.


Subject(s)
Endocrine Glands/metabolism , Insulin Resistance/genetics , Lipodystrophy/genetics , Lipodystrophy/metabolism , Adolescent , Adult , Aged , Child , Female , Humans , Lipodystrophy/complications , Male , Middle Aged , Syndrome
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