Antiticiombin III Deficiency In A Large Family with 41 Affected Members

1981 ◽  
Author(s):  
J Stibbe ◽  
S Adhin ◽  
G L Ong ◽  
R S Panday ◽  
S H Peters ◽  
...  

Hereditary Antithrombin III (AT III) deficiency was found in a large Hindustani family, living partly in the Netherlands, partly in Suriname. Of 201 members investigated 35 were found to affected: AT III activity (chromogenic substrate) and AT III antigen (immuno-electrophoresis according to Laurell) were about 45 %. Analysis of this fanily clearly demonstrated the autosomal dominant inheritance of the condition. Six non-investigated members (1 living, 5 non-living) were diagnosed as being affected on the basis of affected offspring.Seventeen affected members had no signs of thrombo-embolic(TE) processes (age group 0-10 years old, n=2; 11-20, n=5; 21-30, n=4; 31-40, n=4; 41-50, n=2). Thirteen showed clinical or proven signs of TE processes (first time in age group 0-10 years old, n=0; 11-20, n=l; 21-30, n=G; 31-40, n=4; 41-50,n=l; 51-60, n=0; 61-70, n=l). No clinical information is yet available on the remaining affected members. Deep venous thrombosis (DVT) occurred in 9 patients (age group 21-30, n=5; 31-40, n=3; 61-70, n=l). Triggering factors were none 4, surgery 1, oral contraceptives and preg- nancy4. Pulmonary embolism occurred in 6 patients (2 clinical, 4 proven) and was fatal in 4; ages were 19, 21, 26, 37, 48 and 68 years old. Pregnancy was uncomplicated in 3 women (total of 4 pregnancies), one of these women was treated prophylactically with anticoagulants during pregnancy (1 pregnancy). Two women (9 pregnancies) had a thrombotic episode (1st and 3rd pregnancy respectively) and 1 woman died suddenly 7 days after her 7th childbirth. DVT occurred in 2 of 4 women who used oral contraceptive pills.In some symptomless patients (age 22, 26, 32, 33, 40 years old) impedance plethysmography (n=5), 125I-fibrinogen leg scanning (n=3), 125I-fibrinogen T½(n=3) and 51C-platelet survival (n=l) were normal

Author(s):  
Maitri Shah ◽  
Chirayu Parmar ◽  
Riddhi Gor

Background: Dysfunctional uterine bleeding (DUB) is the most common menstrual disorder of women in any age group and is a diagnosis of exclusion. Medical management of menorrhagia is a difficult task as there are wide variations in the available drugs and a lot of different regimes are available. Present study evaluates efficacy and safety of ormeloxifene a selective estrogen receptor modulator (SERMs) as compared to combined oral contraceptive pills in treatment of dysfunctional uterine bleeding in perimenopausal women.Methods: Total 60 patients meeting with our inclusion and exclusion criteria were enrolled in the study over a time period of 6 months and were further divided randomly into two groups. One group was given Ormeloxifene and the other group was treated with combined oral contraceptive pills (COCP) over a period of six months. The outcome variables noted were pictorial blood loss assessment chart (PBAC) score, Hb level and combined endometrial thickness (CET). Quantitative variables were compared using independent t test/Mann-Whitney test between the two groups and paired t Test/Wilcoxon test was used for comparison between pre and post within the group.Results: Both ormeloxifene and COCP significantly reduce blood loss in these patients evidenced by decrease of PBAC score, rise in hemoglobin levels and decrease in CET levels. However, ormeloxifene was found to be superior to COCP in reducing the menstrual blood loss. Ormeloxifene was also tolerated better compared to COCP with fewer side effects experienced by patients.


Drug Safety ◽  
2017 ◽  
Vol 40 (7) ◽  
pp. 583-596 ◽  
Author(s):  
Natasha Larivée ◽  
Samy Suissa ◽  
Janie Coulombe ◽  
Vicky Tagalakis ◽  
Kristian B. Filion

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S10-S11
Author(s):  
Ruhan Wei ◽  
Kathleen Bowers ◽  
Grace Kroner ◽  
Drew Payto ◽  
Jessica Colón-Franco

Abstract Introduction Serum androstenedione (ASD) is a useful biomarker in the diagnostic workup of hyperandrogenism, congenital adrenal hyperplasia, premature adrenarche, and polycystic ovary syndrome (PCOS). Recently, the Elecsys ASD assay (Roche Diagnostics), a competitive electrochemiluminescence immunoassay, became available in the US. Herein, the analytical and clinical performance of the Elecsys ASD assay was tested and compared with the Immulite assay (our current assay) and an LC-MS/MS assay (the gold standard) using deidentified residual patient specimens. Method In this study, the linearity, analytical measuring range (AMR), precision, and accuracy of the Elecsys ASD assay (cobas e602 analyzer) were tested. ASD from 40 deidentified residual serum/plasma samples was measured and compared between the Elecsys assay, the Immulite assay, and an LC-MS/MS assay. The reference intervals (RIs) provided by Roche for healthy male (0.280-1.52 ng/mL), healthy female (0.490-1.31 ng/mL), postmenopausal female (0.187-1.07 ng/mL), healthy children (<0.519 ng/mL), and patients with PCOS (0.645-3.47 ng/mL) were tested with at least 20 specimens, according to CLSI C28A3. Statistical analysis was performed using EP evaluator and R program. Result and conclusion The assay had a linear response across the AMR (0.3-10.0 ng/mL). The inter- and intra-assay coefficients of variation measured at multiple concentrations were less than 4.5% and 2.0%, respectively. The Elecsys ASD assay had an excellent correlation with the LC-MS/MS assay with a mean bias of -0.0542 ng/mL (-2%). The Immulite assay had a mean bias of 1.15 ng/mL (44%) and 1.22 ng/mL (32%) compared to the LC-MS/MS and Elecsys ASD assays, respectively. The Roche recommended RIs for healthy males and postmenopausal females were successfully verified in our patient population. However, the ASD concentrations for the healthy children were outside of the suggested RI, with concentrations up to 1.41 ng/mL. Therefore, the RIs for healthy children were adopted from RIs established using the same LC-MS/MS method used for method comparison. RI verification for the healthy female group also failed since many low ASD values were observed. Instead, a RI of < 1.30 ng/mL was established using 60 deidentified residual serum/plasma specimens. Finally, a separate RI for the PCOS group was not established since it may not provide useful clinical information due to the heterogeneity of the group. Unlike some published studies, hormone therapies such as oral contraceptive pills did not cause a significant decrease in ASD in patient specimens (p=0.4967). Overall, the Elecsys ASD assay has superior comparability to the LC-MS/MS assay than the Immulite assay. We were unable to verify the applicability of the RIs recommended by Roche for healthy females and children, warranting the need to establish or transfer them. When RI verification is challenging due to limited qualified specimens, transferring from an LC-MS/MS established RI is possible as long as the methods are comparable.


Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 697
Author(s):  
Trinidad Montero-Vilchez ◽  
Andrea Valenzuela-Amigo ◽  
Carlos Cuenca-Barrales ◽  
Salvador Arias-Santiago ◽  
Ana Leyva-García ◽  
...  

There is a need to establish the role of antiandrogens as an alternative or concomitant therapy for hidradenitis suppurativa (HS). Thus, the objectives of this study are (1) to assess the effectiveness of oral contraceptive pills (OCPs) at week 12 in HS women, and (2) to describe the clinical profile of patients receiving oral contraceptive pills (OCPs). A prospective observational study was designed. This study included 100 participants, 50 women with HS who started OCPs for the first time at our HS Clinic and 50 participants without OCP treatment. The main outcome of interest was the percentage of reduction in total abscess and inflammatory nodule (AN) count at week 12. Thirty-three women received combined OCPs and 17 non-combined OCP. HS patients with OCPs treatment were younger (31.7 vs. 40.9 years, p < 0.001), thinner (28.62 vs. 33.35 kg/m2), and have a higher number of areas affected (2.32 vs. 1.38, p = 0.02) than those without OCPs. After 12-weeks of treatment, it was observed that the percentage of AN reduction was higher in HS women receiving OCP than in patients without OCP (53.9% vs. 38.42%, p = 0.049). It was observed that OCP prescription (β = 3.79, p = 0.034) and concomitant therapy (β = 3.91, p = 0.037) were independently associated with a higher % AN when controlling for disease duration, concomitant therapy, and treatment with/without OCP (R^2 = 0.67). The factors potentially associated with the percentage AN reduction at week 12 in HS women treated with OCPs were disease duration (β = −1.327, p = 0.052), concomitant therapy (β = 11.04, p = 0.079), and HS worsening with the menstrual cycle (β = 10.55, p = 0.087). In conclusion, OCPs might be effective for improving AN count in women with HS. Women whose HS worsens in relation to the menstrual cycle and have a shorter disease may benefit more from the therapeutic effect of OCPs.


Author(s):  
Akshy Kumar ◽  
Mukul Sharma

<p class="abstract"><strong>Background:</strong> Melasma is an acquired increased pigmentation of the skin, characterized by gray-brown symmetrical patches, mostly in the sun-exposed areas of the skin.</p><p class="abstract"><strong>Methods:</strong> The proposed study is an epidemiological cross sectional study which was carried out in the department of dermatology in a teaching institute from October 2007 to September 2008 at Pramukh Swami Medical College, Karamsad, Gujarat. A total of 60 patients were enrolled for the study over a period of one year.<strong></strong></p><p class="abstract"><strong>Results:</strong> The main age group affected was 30-39 years i.e. 48.33% patients. 50 patients were females.18 patients had a positive family history of melasma. 12 patients had a positive history of using OC Pills. Malar region was the commonest affected area found in 52 patients followed by Centro-facial in 31 and least involvement was seen in forehead region in 24 patients. 20 patients reported association of occurrence of the lesions with pregnancy, 09 patients reported sunlight to be the offending agent.</p><p class="abstract"><strong>Conclusions:</strong> Females were affected more commonly during their late third decade of life. Although we did not find the exact cause of melasma, we noticed that sun-exposure, pregnancy, and taking of oral contraceptive pills could precipitate or exacerbate the melasma.</p>


Author(s):  
Tarnima Saha ◽  
Meenakshi K. Bharadwaj ◽  
Shakti Vardhan

Background: Heavy menstrual bleeding (HMB) is one of the commonest presenting complaints in reproductive age group. Although combined oral contraceptives (COCs) are commonly used in such patients, combined hormones by intravaginal route has been found acceptable and effective. Aim of the study is to compare the efficacy and side effects of combined intravaginal hormonal ring (IHR) with COCs in control of HMB in these patients.Methods: Hundred women with HMB fulfilling inclusion criteria were randomized into two equal groups and treated with either IHR or COCs for three cycles. Each cycle consisted of three weeks of IHR/COC use followed by 1-week ring-free/non-hormonal pills period. Outcome measures were change in PBAC score (pictorial blood loss assessment chart), hemoglobin rise, side effects and overall patient satisfaction.Results: The percentage reduction in PBAC score, the duration of menses and increase in hemoglobin levels were statistically significant at the end of study in each group. The PBAC score reduction was 87.37% vs 61.52%, menses duration was 4.24±0.74 versus 5.16±1.67, and hemoglobin increase was 3.16 (95% CI:0.142-1.412) and 1.24 (95% CI:1.048-1.640) in the IHR versus COC group. However, the intergroup reduction of mean PBAC score was not statistically significant. Significantly more ring users were satisfied and elected to continue with treatment.Conclusions: Both the IHR and COCs are effective treatments for HMB in reproductive age group. IHR may be an attractive option for HMB due to better compliance and lesser systemic side-effects.


Author(s):  
Kalyan Dalave ◽  
Mahendra Singh Deora ◽  
Sonia Sabhandasani ◽  
Pallavi Singh ◽  
Alisha Mittal ◽  
...  

<p class="abstract"><strong>Background:</strong> Genetic diseases causing abnormalities in structure and<strong>/</strong>or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.</p><p class="abstract"><strong>Methods:</strong> A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous<strong>/</strong>extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.<strong></strong></p><p class="abstract"><strong>Results:</strong> Out of 4032 pediatric patients<strong>, </strong>35 were found to have genodermatoses.<strong> </strong>Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.</p><p class="abstract"><strong>Conclusions:</strong> Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.</p>


1985 ◽  
Vol 05 (04) ◽  
pp. 127-133
Author(s):  
E. Thaler

IV. Zusammenfassende BetrachtungenIm ersten Teil der Übersichtsarbeit wurden vier pathogenetisch unterschiedliche Formen eines vergleichbar schweren AT-III-Mangels vorgestellt.Am besten läßt sich anhand des angeborenen, autosomal dominant vererbten AT-III-Mangels die Beziehung zwischen niedrigen Plasma-ATIII-Spiegeln und Thromboserisiko ableiten, da es sich hier um eine isolierte Störung handelt. Das Hämostasegleichgewicht ist hier einseitig durch eine geringere Gerinnungshemmung gestört. Als Ausdruck dieses Ungleichgewichts resultieren fast ausschließlich schwere venöse thromboembolische Ereignisse, jedoch gelegentlich erst nach jahrzehntelangerLatenz. Eine weitere wichtige Erkenntnis ist, wenn AT III nicht substituiert wird, die Unwirksamkeit einer Behandlung mit Heparin bei thromboembolischen Ereignissen, jedoch eine volle prophylaktische Wirksamkeit peroraler Antikoagulantien vom Kumarintyp, offenbar durch eine Wiederherstellung des hämostatischen Gleichgewichts auf niedrigerem Niveau.Ein hämostatisches Gleichgewicht auf niedrigerem Niveau scheint auch bei der fortgeschrittenen Leberzirrhose vorzuliegen, da trotz schwerem ATIII-Mangel das Thromboserisiko nicht erhöht ist. Dieses Gleichgewicht ist aber leichter störbar, auf relativ geringe gerinnungsfördernde Stimuli reagieren diese Patienten gehäuft mit einer VK.Am Beispiel des schweren nephrotischen Syndroms, bei welchem das Hämostasegleichgewicht zuungunsten des AT III und zugunsten gerinnungsfördernder Faktoren verändert ist, läßt sich eine im Vergleich zum angeborenen AT-III-Mangel wesentlich höhere Thromboseneigung nachweisen.Bei der Septikämie mit vergleichbar schwerem AT-III-Mangel ist über das Thromboserisiko zu wenig bekannt. Nach bisherigen Erkenntnissen herrscht hier die klinisch und therapeutisch nicht weniger relevante DIG mit ihren sehr komplexen Hämostaseveränderungen vor.Im folgenden Teil der Arbeit wurde auf einige Zustände mit evidenter Thromboseneigung eingegangen, bei denen nicht sicher eine Beziehung zu einem entsprechend schweren AT-III-Mangel gefunden werden konnte, wie die Einnahme östrogenhaltiger Kontrazeptiva, größere chirurgische Eingriffe und maligne Tumoren. Interessanterweise ist bei diesen Zuständen eine Prophylaxe oder Therapie mit Heparin zumeist wirksam.


2018 ◽  
Vol 2 (1) ◽  
Author(s):  
Sameerah Mustafa ◽  
Asal Tawfeeq ◽  
Hadeel Hasan

This study involved the collection of (90) samples of women serum which included (30) serum samples collected from women before menopause (reproductive women) in the age range of (22-43) years and were considered as (group A- control). While, (group B) included (30) serum samples collected from women using oral contraceptive pills between the ages of (22-43) years old. Whereas, another (30) serum samples were collected from women after menopause between the ages of (43-54) years and were considered as (group C). All of the collected serum samples were subjected to a number of serological and chemical tests for the measurement of (E2, HDL, LDL and Ca). Then, the obtained data were statistical analyzed and results showed a significant decrease (p˂ 0.05) in (E2 ,Ca and HDL) levels in menopausal women compared to that of the normal healthy controls. While, there were non-significant decrease (p> 0.05) in (E2, Ca and HDL) levels in women taking oral contraceptive when compared to the normal healthy controls. On the other hand, a significant increase (p˂ 0.05) was recorded in LDL level in menopausal women compared to that of the normal healthy controls whereas, no-significant increase (p˃ 0.05) in the LDL level in women taking oral contraceptives when compared to the control women.


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