Relationship between a Mild α1 Proteinase Inhibitor Deficiency and Respiratory Symptoms in a Family

1995 ◽  
Vol 32 (6) ◽  
pp. 545-549 ◽  
Author(s):  
Guillemette Huet-Duvillier ◽  
Malika Balduyck ◽  
Yves Watrigant ◽  
Richard Sesboue ◽  
Carole Thiebaut ◽  
...  
Keyword(s):  
Proteinase Inhibitor ◽  
Respiratory Symptoms ◽  
Normal Limit ◽  
Normal Range ◽  
Pancreatic Elastase ◽  
Inhibitory Capacity ◽  
Normal Limits ◽  
The Family ◽  
History Of ◽  
Pi Deficiency

A 34-year-old man with pulmonary emphysema was found to have a mild α1 proteinase inhibitor (α1 PI) deficiency. α1 PI status was investigated in this patient and in 35 members of his family. The α1 PI investigations included α1 PI concentration and phenotype and serum inhibitory capacity for trypsin and pancreatic elastase. Fifteen members of the family had α1 PI concentration and inhibitory capacities below the lower normal limit. Five of these members were characterized by the heterozygous MP phenotype and the 10 others by an apparently homozygous M phenotype, in which the M allele may be associated with another unidentified deficiency allele. Two members of the family had α1 PI concentration and elastase inhibitory capacity below the lower normal limits and trypsin inhibitory capacity within the normal range. They were both characterized by the MP phenotype. Six of these 17 members (three of PI type M and three of PI type MP) showed chronic pulmonary symptoms, whereas among the 19 α1 PI non deficient members, no member had a history of significant pulmonary symptoms.

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

1985 ◽  
Vol 54 (04) ◽  
pp. 744-745 ◽  
Author(s):  
R Vikydal ◽  
C Korninger ◽  
P A Kyrle ◽  
H Niessner ◽  
I Pabinger ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Antithrombin Iii ◽  
Positive Family History ◽  
Normal Range ◽  
The Family ◽  
History Of ◽  
Antithrombin Iii Deficiency ◽  
Recurrent Venous Thrombosis ◽  
Antithrombin Iii Activity ◽  
Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

scholarly journals Profil Darah Ikan Gelodok (Periophthalmodon schlosseri) dan (Boleophthalamus boddarti) di Desa Kuala Tambangan Pelaihari, Kalimantan Selatan

2020 ◽  
Vol 7 (2) ◽  
pp. 176
Author(s):  
Nita Azhari ◽  
Hidayaturrahmah Hidayaturrahmah
Keyword(s):  
Normal Limit ◽  
Hemoglobin Concentration ◽  
Mangrove Ecosystem ◽  
Normal Range ◽  
Blood Profile ◽  
Normal Limits ◽  
Range Type ◽  
Periophthalmodon Schlosseri ◽  
The Village ◽  
Mean Cell Hemoglobin

Profil darah memiliki peran yang sangat penting dalam fisiologi metabolisme dan aktifitas tubuh hewan. Kuala Tambangan memiliki banyak potensi sumber daya ikan salah satunya ikan gelodok. Ikan gelodok di kawasan ini mudah ditemukan, akan tetapi sampai sekarang belum dimanfaatkan dengan baik oleh masyarakat. Tujuan penelitian ini untuk mengetahui profil darah ikan gelodok jenis Periophthalmodon schlosseri dan Boleophthalamus boddarti pada ekosistem mangrove yang berada di desa Kuala Tambangan, Kabupaten Tanah Laut, Kalimantan Selatan. Metode yang digunakan pada penelitian ini yaitu metode penangkapan hewan langka yaitu line transek, metode hemositometer dan metode sahli parameter yang dihitung hemoglobin, eritrosit, leukosit, hematokrit, MCV (Mean Corpusculla Volume), MCH (Mean Cell Hemoglobin), MCHC (Mean Cell Hemoglobin Concentration) pada 2 jenis ikan gelodok 34 ekor P. schlosseri dan 34 ekor B. boddarti. Hasil yang didapatkan adalah eritrosit P. schlosseri 3,87±0,58 x 106 sel/μL; B. boddarti 3,78±0,73 x 106 sel/μL 2 jenis ikan gelodok ini memiliki nilai eritrosit diatas batas normal; leukosit P. schlosseri 11,91±5,61 x103 sel/μL dan B. boddartii 9,72±4,24 x103 sel/μL nilai leukosit pada 2 jenis ikan gelodok ini berada di atas batas normal; hemoglobin P. schlosseri 11,59±1,75 % dan B. boddartii 11,75±1,96 % dari hasil yang didapat kadar hemoglobin pada 2 jenis ikan gelodok ini berada di atas batas normal kadar hemoglobin ikan pada umumnya; hematokrit P. schlosseri 34,32±5,57 % dan B. boddartii 35,71±5,44 % hasil hematokrit yang didapat dari 2 jenis ikan gelodok ini yaitu di atas batas normal; jenis P. schlosseri memiliki nilai MCV 88,72±6,62 μm3 yang berada di bawah batas normal; MCH 29,92±0,69 pg/sel yang berada di bawah batas normal; MCHC 33,99±3,97 g/dL pada jenis ini nilai MCHC masih berada pada batas normal; jenis B. boddartii memiliki nilai MCV 96,16±17,96 μm3 yang berada di bawah batas normal; MCH 31,51±5,50 pg/sel yang masih berada di batas normal; MCHC 32,87±1,77 g/dL nilai MCHC pada jenis ini masih berada pada batas normal. Blood profile has a very important role in the physiology of metabolism and animal body activities. Kuala Tambangan has a lot of potential fish resources, one of which is the fish Mudskipper. Mudskipper fish in this area are easy to find, but until now it has not been utilized properly by the community. The purpose of this study was to determine the blood profile of the Periophthalmodon Schlosseri and Boleophthalamus boddarti fish species in the mangrove ecosystem in the village of Kuala Tambangan, Tanah Laut District, South Kalimantan . The method used in this study is the method of catching endangered animals namely trasnek line, hemocytometer method and parameter Sahli method which is calculated hemoglobin, erythrocytes, leukocytes, hematocrit, MCV (Mean Corpuscular Volume), MCH (Mean Cell Hemoglobin), MCHC (Mean Cell Hemoglobin Concentration) on 2 types of fish, 34 Periophthalmodon schlosseri and 34 Boleophthalmus boddarti. The results obtained were P. schlosseri erythrocytes 3.87 ± 0.58 x 106 cells / μL; B. boddarti 3.78 ± 0.73 x 106 cells / μL 2 types of fish Mudskipper has erythrocyte values above the normal limit; P. schlosseri leukocytes 11.91 ± 5.61 x103 cells / μL and B. boddartii 9.72 ± 4.24 x103 cells / μL leukocyte values in these 2 types of jagged fish are above normal limits; hemoglobin P. schlosseri 11.59 ± 1.75 % and B. boddartii 11.75 ± 1.96 % from the results obtained by the hemoglobin levels in these 2 types of fishes are above the normal limit of fish hemoglobin levels in general; hematocrit P.schlosseri 34.32 ± 5.57 % and B. boddartii 35.71 ± 5.44 % hematocrit results obtained from these 2 types of mudskipper fish are above normal limits; P.schlosseri species had MCV values of 88.72 ± 6.62 μm3 which were below normal limits; MCH 29.92 ± 0.69 pg / cell that is below the normal range; MCHC 33.99 ± 3.97 g / dL in this type the MCHC value is still in the normal range; type B. boddartii has a MCV value of 96.16 ± 17.96 μm3 which is below normal limits; MCH 31,51 ± 5.50 pg / cell which is still in the normal range; MCHC 32.87 ± 1.77 g / dL MCHC values in this type are still within normal limits.Keywords: gelodok, blood, kuala tambangan

Diagnosing Bird Fancier's Disease in Children

PEDIATRICS ◽  
1990 ◽  
Vol 85 (5) ◽  
pp. 848-852
Author(s):  
WILLIAM F. H. YEE ◽  
ROBERT G. CASTILE ◽  
AMIEL COOPER ◽  
MARY ROBERTS ◽  
ROY PATTERSON
Keyword(s):  
Weight Loss ◽  
Environmental History ◽  
Respiratory Symptoms ◽  
Hypersensitivity Pneumonitis ◽  
Case Reports ◽  
Low Grade ◽  
Poor Appetite ◽  
The Family ◽  
History Of ◽  
Respiratory Complaints

Bird fancier's disease is a form of hypersensitivity pneumonitis resulting from inhalation of various avian proteins. It is rarely diagnosed in childhood but should be considered in any child with persistent unexplained respiratory symptoms.1,2 We describe two patients referred to our pulmonary clinic with nonspecific respiratory complaints, in whom the diagnosis of avian protein-related hypersensitivity pneumonitis was initially not confirmed by serologic studies. CASE REPORTS Patient 1 An 11-year-old boy was admitted to the hospital with a 1-year history of a mild nonproductive cough, poor appetite, weight loss, malaise, and an intermittent low-grade fever. According to an environmental history, the boy's father had been breeding pigeons, canaries, and parakeets in the family yard for years.

scholarly journals Successful Pregnancy of a DVR Patient -A Case Report.

KYAMC Journal ◽  
2013 ◽  
Vol 3 (2) ◽  
pp. 306-308
Author(s):  
Mst. Stia Sultana ◽  
Md. Saiful Islam ◽  
Monira Akter ◽  
Masuma Khatun
Keyword(s):  
Normal Limit ◽  
Normal Limits ◽  
Double Valve Replacement ◽  
Mitral Position ◽  
Healthy Female ◽  
Minor Ailments ◽  
History Of ◽  
Female Baby ◽  
Surgery Department ◽  
Rheumatic Heart

Mrs Rojina Akter 27 years old lady presented to us with complains of 12 weeks amenorrhea with the history of Rheumatic heart disease(MS-severe with MR Gr-2+ with AR Gr-2) treated surgically with mechanical metallic Double valve Replacement on 7th April 2010 in Cardiac Surgery Department of KYAMCH. It was her second conception.first one was terminated by MR due to fear of cardiac problem out side of this hospital. She also noticed slight breathlessness & palpitation. On examination- she was anxious, her respiratory rate, pulse rate & blood pressure were within normal limits. Her ECG report was within normal limit & colour Doppler Echo study showed normally functioning prosthetic metallic valves in Aortic & Mitral position with normal ejection fraction. Under joint-consultation with Cardiologist & Obstetrician she was advised to continue her pregnancy with careful & regular antenatal check up. During antenatal period she continued her cardiac medications & other supplementary drugs for her pregnancy. Without some minor ailments she continued her pregnancy up to 38 wks, then she delivered a healthy female baby by caesarean section on 6th August 2012 .Now she is well under the supervision of Cardiologist. KYAMC Journal Vol. 3, No.-2, January 2013, Page 306-308 DOI: http://dx.doi.org/10.3329/kyamcj.v3i2.15173

scholarly journals Assessment of red cell sodium transport in essential hypertension

Blood ◽  
1982 ◽  
Vol 59 (2) ◽  
pp. 439-442
Author(s):  
JR Mahoney ◽  
NL Etkin ◽  
JD McSwigan ◽  
JW Eaton
Keyword(s):  
Essential Hypertension ◽  
Secondary Hypertension ◽  
Transport Processes ◽  
Red Cell ◽  
Na Transport ◽  
Normal Range ◽  
Normal Limits ◽  
Direct Technique ◽  
History Of ◽  
22Na Uptake

Abnormal erythrocyte Na+ transport has been reported in patients with essential hypertension and some first-degree relatives. The two major techniques now employed for estimating Na+ transport--Na+/Li+ countertransport and Na+/K+ cotransport--are rather intricate and time consuming. Furthermore, the precise nature of the transport processes being measured is not clear. We have developed a simpler, more direct technique based on measurement of 22Na+ accumulation by erythrocytes. 22Na+ uptake by red cells from patients with essential hypertension averages twice normal. Indeed, of 21 patients with essential hypertension, only 2 patients had values within the upper end of the normal range. In 12 patients with secondary hypertension and no family history of essential hypertension, erythrocyte 22Na+ accumulation was within normal limits. Control experiments indicate that our technique for estimating red cell 22Na+ uptake is highly reproducible and shows little day-to-day variation. This procedure for the assessment of erythrocyte Na+ transport should be useful in differential diagnosis and the presymptomatic identification of individuals genetically prone to essential hypertension.

Hereditary complete deficiency of lactate dehydrogenase H-subunit.

1989 ◽  
Vol 35 (4) ◽  
pp. 687-690 ◽  
Author(s):  
R Joukyuu ◽  
S Mizuno ◽  
T Amakawa ◽  
T Tsukada ◽  
T Nishina ◽  
...  
Keyword(s):  
Lactate Dehydrogenase ◽  
Reference Interval ◽  
Glycolytic Enzyme ◽  
Japanese Woman ◽  
Dihydroxyacetone Phosphate ◽  
Normal Range ◽  
Normal Limits ◽  
Ldh Activity ◽  
The Family ◽  
Old Japanese

Abstract We report the second known case of a patient, a 45-year-old Japanese woman, with hereditary complete deficiency of lactate dehydrogenase (LDH; EC 1.1.1.27) H-subunit. Total LDH activity in her serum was abnormally low (35 U/L, normal reference interval 195-360). LDH activity in her erythrocytes was also low, but all the other glycolytic enzyme activities in her erythrocytes were within normal limits. Electrophoresis of her serum, erythrocytes, lymphocytes, thrombocytes, and saliva showed only one band, the LDH M4 isoenzyme. LDH activities in her saliva and lymphocytes exceeded the reference interval. Her erythrocytes contained fructose 1,6-diphosphate 26 mumol/L (normal range 4-13), dihydroxyacetone phosphate 75 mumol/L (normal range 8-22), glyceraldehyde 3-phosphate 57 mumol/L (normal range 4-14), and pyruvate 45 mumol/L (normal range 31-63). The family study of three generations showed that this deficiency was inherited in an autosomal recessive mode.

scholarly journals PREGNANCY IN CONGENITAL SEPTATE UTERUS

2018 ◽  
Vol 1 (1) ◽  
pp. 5-6
Author(s):  
Mihai Cristian Dumitrașcu ◽  
Cătălin-George Nenciu ◽  
Adina-Elena Nenciu
Keyword(s):  
Normal Values ◽  
Clomiphene Citrate ◽  
Normal Range ◽  
Septate Uterus ◽  
Normal Limits ◽  
Increased Risk ◽  
History Of Pathology ◽  
History Of ◽  
Uterine Malformations ◽  
Exploratory Laparoscopy

Congenital uterine malformations can be found in low percentage in the general population due to the defect of joining the paramezonephrotic ducts and  often causes infertility [1]. In the case of malformed uterine pregnancy we encounter increased  risk of spontaneous abortion, premature birth and fetal dystocia [2]. We present the case of a 24 year patience, without a personal history of pathology and  primary infertility for two years .The blood test reveal  normal values with hormonal analyzes within normal limits. The clinically examination it is in normal range. The ultrasound revealed partial septate uterus. The diagnosis was confirmed in histerosalpingography. The  exploratory laparoscopy  shown permeability for both fallopian tubes.After ovarian stimulation with Clomiphene Citrate two months in a row a pregnancy was obtain. The patient delivered at term, without complication during pregnancy.  

scholarly journals Assessment of red cell sodium transport in essential hypertension

Blood ◽  
1982 ◽  
Vol 59 (2) ◽  
pp. 439-442 ◽  
Author(s):  
JR Mahoney ◽  
NL Etkin ◽  
JD McSwigan ◽  
JW Eaton
Keyword(s):  
Essential Hypertension ◽  
Secondary Hypertension ◽  
Transport Processes ◽  
Red Cell ◽  
Na Transport ◽  
Normal Range ◽  
Normal Limits ◽  
Direct Technique ◽  
History Of ◽  
22Na Uptake

Abstract Abnormal erythrocyte Na+ transport has been reported in patients with essential hypertension and some first-degree relatives. The two major techniques now employed for estimating Na+ transport--Na+/Li+ countertransport and Na+/K+ cotransport--are rather intricate and time consuming. Furthermore, the precise nature of the transport processes being measured is not clear. We have developed a simpler, more direct technique based on measurement of 22Na+ accumulation by erythrocytes. 22Na+ uptake by red cells from patients with essential hypertension averages twice normal. Indeed, of 21 patients with essential hypertension, only 2 patients had values within the upper end of the normal range. In 12 patients with secondary hypertension and no family history of essential hypertension, erythrocyte 22Na+ accumulation was within normal limits. Control experiments indicate that our technique for estimating red cell 22Na+ uptake is highly reproducible and shows little day-to-day variation. This procedure for the assessment of erythrocyte Na+ transport should be useful in differential diagnosis and the presymptomatic identification of individuals genetically prone to essential hypertension.

Hereditary Heparin Cofactor II Deficiency and the Risk of Development of Thrombosis

1987 ◽  
Vol 57 (02) ◽  
pp. 196-200 ◽  
Author(s):  
R M Bertina ◽  
I K van der Linden ◽  
L Engesser ◽  
H P Muller ◽  
E J P Brommer
Keyword(s):  
Liver Disease ◽  
Venous Thrombosis ◽  
Healthy Volunteers ◽  
Mean Value ◽  
Age Group ◽  
Normal Range ◽  
Heparin Cofactor Ii ◽  
History Of ◽  
Group 2 ◽  
Hereditary Nature

SummaryHeparin cofactor II (HC II) levels were measured by electroimmunoassay in healthy volunteers, and patients with liver disease, DIC, proteinuria or a history of venous thrombosis. Analysis of the data in 107 healthy volunteers revealed that plasma HC II increases with age (at least between 20 and 50 years). HC II was found to be decreased in most patients with liver disease (mean value: 43%) and only in some patients with DIC. Elevated levels were found in patients with proteinuria (mean value 145%). In 277 patients with a history of unexplained venous thrombosis three patients were identified with a HC II below the lower limit of the normal range (60%). Family studies demonstrated hereditary HC II deficiency in two cases. Among the 9 heterozygotes for HC II deficiency only one patient had a well documented history of unexplained thrombosis. Therefore the question was raised whether heterozygotes for HC II deficiency can also be found among healthy volunteers. When defining a group of individuals suspected of HC II deficiency as those who have a 90% probability that their plasma HC II is below the 95% tolerance limits of the normal distribution in the relevant age group, 2 suspected HC II deficiencies were identified among the healthy volunteers. In one case the hereditary nature of the defect could be established.It is concluded that hereditary HC II deficiency is as prevalent among healthy volunteers as in patients with thrombotic disease. Further it is unlikely that heterozygosity for HC II deficiency in itself is a risk factor for the development of venous thrombosis.

Spontaneous Haemophilia in a Female

1960 ◽  
Vol 04 (03) ◽  
pp. 369-375 ◽  
Author(s):  
E. H Braun ◽  
David B. Stollar
Keyword(s):  
Family History ◽  
Bleeding Time ◽  
Dental Extraction ◽  
White Girl ◽  
Complete Family ◽  
Normal Limits ◽  
Sex Chromatin ◽  
History Of ◽  
Generation Test

SummaryA case of haemophilia in a young white girl is described. There was a history of bleeding from birth. The thromboplastin generation test was grossly abnormal and A. H. G. levels were below 1%. Bleeding time and capillary morphology was within normal limits. Dental extraction after transfusion caused almost uncontrollable haemorrhage.A complete family history was obtained for four generations. There was no case of a “bleeder” amongst these.The girl’s apparent sex was confirmed by sex chromatin studies.

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