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1.
Rev Sci Instrum ; 92(12): 123201, 2021 Dec 01.
Article in English | MEDLINE | ID: mdl-34972421

ABSTRACT

A new experimental setup has been developed to investigate the reactions of molecular ions and charged clusters with a variety of projectile beams. An Electrostatic Ion Beam Trap (EIBT) stores fast ions at keV energies in an oscillatory motion. By crossing it with a projectile beam, e.g., an IR laser, molecular reactions can be induced. We implemented a Reaction Microscope (REMI) in the field-free region of the EIBT to perform coincidence spectroscopy on the resulting reaction products. In contrast to prior experiments, this unique combination of techniques allows us to measure the 3D momentum-vectors of ions, electrons, and neutrals as reaction products in coincidence. At the same time, the EIBT allows for advanced target preparation techniques, e.g., relaxation of hot molecules during storage times of up to seconds, autoresonance cooling, and recycling of target species, which are difficult to prepare. Otherwise, the TrapREMI setup can be connected to a variety of projectile sources, e.g., atomic gas jets, large-scale radiation facilities, and ultrashort laser pulses, which enable even time-resolved studies. Here, we describe the setup and a first photodissociation experiment on H2 +, which demonstrates the ion-neutral coincidence detection in the TrapREMI.

2.
Eur J Trauma Emerg Surg ; 45(2): 255-261, 2019 Apr.
Article in English | MEDLINE | ID: mdl-29318345

ABSTRACT

PURPOSE: Patients with multiple injuries are particularly susceptible to accidental hypothermia which is correlated with an increased risk of post-traumatic complications and mortality; however, its impact on neurological outcome in cases where there is concomitant traumatic brain injury is underexplored. METHODS: We analyzed severely injured patients (ISS ≥ 16) including a moderate-to-severe traumatic brain injury (AISHead ≥ 3). The primary endpoint was objective neurological recovery, expressed as Glasgow Outcome Scale (GOS) score at time of discharge. Secondary endpoints were mortality, systemic inflammatory response syndrome (SIRS), sepsis, acute respiratory distress syndrome (ARDS) and multiple organ dysfunction syndrome (MODS). Statistical analysis included logistic regression (odds ratio). The significance level in all analyses was p = 0.05. RESULTS: We analyzed 278 patients (M age = 43 years, SD 19; M ISS = 32.8, SD 10.7). Mortality was 17% (n = 14). 102 patients (37%) were hypothermic on admission. Hypothermic patients were more severely injured (ISS 35.6 ± 11.1 vs. 31.2 ± 10.1, p = 0.001; APACHE II 18.1 ± 7.4 vs. 16.2 ± 7.3, p = 0.045) and had a higher transfusion requirement. Mortality rate in hypothermic patients was increased (23.5 vs. 13.1%, p = 0.03); however, hypothermia was not an independent predictor of mortality. Median GOS at discharge was 3 (IQR 3); in 47% of patients the outcome was favorable (GOS 4 or 5) and 36% it was poor (GOS 2 or 3). There were no differences in post-traumatic complications. Analysis of 73 matched pairs of hypothermic and normothermic patients could not prove hypothermia as an independent predictor of poor neurological outcome (OR 1.7, 95% CI 0.8-3.6, p = 0.1) in the total population. However, older patients (> 41 years) had a 4.2-times higher risk (95% CI 1.4-12.7; p = 0.01) of poor neurological outcome, if they were hypothermic on admission. CONCLUSIONS: Accidental hypothermia seems to have a negative impact on neurological recovery in older patients with multiple injuries including traumatic brain injury which outweighs potential benefits.


Subject(s)
Brain Injuries, Traumatic/physiopathology , Hypothermia/physiopathology , Multiple Organ Failure/physiopathology , Neurodegenerative Diseases/physiopathology , Respiratory Distress Syndrome/physiopathology , Sepsis/physiopathology , Systemic Inflammatory Response Syndrome/physiopathology , Adult , Brain Injuries, Traumatic/complications , Brain Injuries, Traumatic/mortality , Female , Humans , Hypothermia/etiology , Hypothermia/mortality , Injury Severity Score , Male , Matched-Pair Analysis , Middle Aged , Multiple Organ Failure/mortality , Neurodegenerative Diseases/etiology , Neurodegenerative Diseases/mortality , Outcome Assessment, Health Care , Prognosis , Respiratory Distress Syndrome/mortality , Sepsis/mortality , Systemic Inflammatory Response Syndrome/mortality , Time Factors , Young Adult
3.
Neuropsychologia ; 82: 74-83, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26721762

ABSTRACT

Apraxia typically results from left-hemispheric (LH), but also from right-hemispheric (RH) stroke, and often impairs gesture imitation. Especially in LH stroke, it is important to differentiate apraxia-induced gesture imitation deficits from those due to co-morbid aphasia and associated semantic deficits, possibly influencing the imitation of meaningful (MF) gestures. To explore this issue, we first investigated if the 10 supposedly meaningless (ML) gestures of a widely used finger imitation test really carry no meaning, or if the test also contains MF gestures, by asking healthy subjects (n=45) to classify these gestures as MF or ML. Most healthy subjects (98%) classified three of the 10 gestures as clearly MF. Only two gestures were considered predominantly ML. We next assessed how imitation in stroke patients (255 LH, 113 RH stroke) is influenced by gesture meaning and how aphasia influences imitation of LH stroke patients (n=208). All patients and especially patients with imitation deficits (17% of LH, 27% of RH stroke patients) imitated MF gestures significantly better than ML gestures. Importantly, meaningfulness-scores of all 10 gestures significantly predicted imitation scores of patients with imitation deficits. Furthermore, especially in LH stroke patients with imitation deficits, the severity of aphasia significantly influenced the imitation of MF, but not ML gestures. Our findings in a large patient cohort support current cognitive models of imitation and strongly suggest that ML gestures are particularly sensitive to detect imitation deficits while minimising confounding effects of aphasia which affect the imitation of MF gestures in LH stroke patients.


Subject(s)
Apraxias/psychology , Gestures , Imitative Behavior , Stroke/complications , Aged , Apraxias/etiology , Female , Fingers , Humans , Male , Middle Aged
4.
Clin Genet ; 74(5): 414-24, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18954412

ABSTRACT

Few studies have reported prospective data on psychosocial outcomes after genetic counselling in families with suspected hereditary non-polyposis colorectal cancer (HNPCC). This prospective study examines the impact of multidisciplinary risk counselling on the psychosocial outcome of 139 affected cancer patients and 233 family members without cancer at risk for HNPCC. Participants completed questionnaires specific to HNPCC before and 8 weeks after attending the familial cancer clinic. Affected patients' levels of distress were closely related to their health status and exceeded that of unaffected individuals, as did worry regarding their relatives' risk. A significant reduction in general anxiety (Hospital Anxiety and Depression Scale), distress specific to familial CRC (Impact of Events Scale) and general cancer worry (Distress Hereditary Disorder) was demonstrated after counselling in both affected patients and unaffected individuals. Reduction in distress was more pronounced in affected patients given a high risk of HNPCC compared with those at intermediate risk. Among unaffected individuals, distress declined regardless of what clinical risk they were assigned. Their perceptions of risk and cancer-related threat declined, while confidence in effective surveillance increased. These results suggest the beneficial effects of multidisciplinary counselling even when high-risk information is conveyed. A patient's previous cancer experience is likely to contribute to clinically relevant distress (15% of those patients), indicating the need for appropriate counselling.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/psychology , Genetic Counseling , Adolescent , Adult , Aged , Aged, 80 and over , Family , Female , Humans , Male , Middle Aged , Prospective Studies , Psychology , Risk Factors
5.
J Eur Acad Dermatol Venereol ; 21(9): 1170-4, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17894700

ABSTRACT

AIM: The aim of this pilot study was an investigation on photodynamic therapy (PDT) whether it is a good alternative for treating periungual and subungual warts of the hands. STUDY DESIGN: Twenty patients (mean age: 30.5 years) with a total of 40 periungual and subungual warts were treated with PDT. A photosensitizer, 20%delta-aminolevulinic acid was applied on the warts. After a mean incubation time of 4.6 h (SD: 1.2), the warts were irradiated with the VersaLight for 5-30 min (15.2 +/- 4.3 min). RESULTS: After a mean of 4.5 treatments a mean clearance of 100% was achieved in 90% of the patients. One patient (5%) showed a clearance of 50% and another showed no improvement. The subungual or periungual location of the wart had no influence on the number of treatments or end result (P > 0.05). There were two recurrences during the mean follow-up period of 5.9 months (SD: 7.6). Besides mainly pain and hyperpigmentation, most treatments had no side-effects. CONCLUSION: PDT can offer a good alternative for treating periungual warts of the hands. Larger studies are indicated.


Subject(s)
Hand Dermatoses/drug therapy , Photochemotherapy/methods , Warts/drug therapy , Administration, Topical , Adolescent , Adult , Aminolevulinic Acid/administration & dosage , Child , Female , Humans , Male , Middle Aged , Photosensitizing Agents/administration & dosage , Pilot Projects , Treatment Outcome
6.
J Cosmet Laser Ther ; 5(3-4): 206-7, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14741832
7.
Curr Probl Dermatol ; 29: 26-42, 2001.
Article in English | MEDLINE | ID: mdl-11225199

ABSTRACT

Many studies have demonstrated beneficial health effects of topical antioxidant application; however, the underlying mechanisms are not well understood. To better understand the protective mechanism of oxogenous anti-oxidants, it is important to clarify the physiological distribution, activity and regulation of antioxidants. Also, the generation of ROS by the resident and transient microbial flora and their interaction with cutaneous antioxidants appears to be of relevance for the redox properties of skin. Our studies have demonstrated that alpha-tocopherol is, relative to the respective levels in the epidermis, the major antioxidant in the human SC, that alpha-tocopherol depletion is a very early and sensitive biomarker of environmentally induced oxidation and that a physiological mechanism exists to transport alpha-tocopherol to the skin surface via sebaceous gland secretion. Furthermore, there is conclusive evidence that the introduction of carbonyl groups into human SC keratins is inducible by oxidants and that the levels of protein oxidation increase towards outer SC layers. The demonstration of specific redox gradients within the human SC may contribute to a better understanding of the complex biochemical processes of keratinization and desquamation. Taken together, the presented data suggest that, under conditions of environmentally challenged skin or during prooxidative dermatological treatment, topical and/or systemic application of antioxidants could support physiological mechanisms to maintain or restore a healthy skin barrier. Growing experimental evidence should lead to the development of more powerful pharmaceutical and cosmetic strategies involving antioxidant formulations to prevent UV-induced carcinogenesis and photoaging as well as to modulate desquamatory skin disorders.


Subject(s)
Antioxidants/metabolism , Epidermis/metabolism , Aging/metabolism , Air Pollutants/pharmacology , Animals , Antioxidants/pharmacology , Arm , Ascorbic Acid/metabolism , Benzoyl Peroxide/pharmacology , Catalase/metabolism , Cheek , Epidermis/drug effects , Epidermis/microbiology , Epidermis/radiation effects , Glutathione/metabolism , Guinea Pigs , Humans , Keratinocytes/metabolism , Keratinocytes/radiation effects , Lipid Peroxidation/drug effects , Lipid Peroxidation/radiation effects , Oxidants/pharmacology , Ozone/pharmacology , Photochemistry , Proteins/metabolism , Proteins/radiation effects , Radiation Injuries/metabolism , Sebum/metabolism , Squalene/metabolism , Squalene/radiation effects , Ultraviolet Rays , Uric Acid/metabolism , Vitamin E/metabolism , Vitamin E/pharmacology
8.
Br J Dermatol ; 142(2): 338-9, 2000 Feb.
Article in English | MEDLINE | ID: mdl-10730770

ABSTRACT

The incidence of basal cell carcinomas (BCCs) is still increasing, and there is a demand for an easy, effective and selective non-invasive treatment such as topical photodynamic therapy (PDT). Twenty-three patients with 24 nodular BCCs were treated once with delta-aminolaevulinic acid (delta-ALA) PDT (100 mW cm(-2), 120 J/cm2) 3 weeks after prior debulking of the BCCs. Three months after PDT, all lesions were surgically excised and histopathologically evaluated for residual tumour. Twenty-two (92%) of the 24 nodular BCCs showed a complete response on clinical and histopathological examination. PDT for superficially abraded nodular BCCs with topically applied delta-ALA and the VersaLight as light source is an easy, effective and safe therapy, with excellent cosmetic results and no serious side-effects, in cases where non-surgical treatment of BCCs is indicated.


Subject(s)
Carcinoma, Basal Cell/drug therapy , Photochemotherapy/methods , Skin Neoplasms/drug therapy , Carcinoma, Basal Cell/surgery , Combined Modality Therapy , Humans , Skin Neoplasms/surgery
9.
Eur J Dermatol ; 9(5): 374-9, 1999.
Article in English | MEDLINE | ID: mdl-10417441

ABSTRACT

Until recently, previously applied methods to remove hair have ultimately proven ineffective or resulted in the formation of scars and small wounds. Different methods for removing hair in a more or less permanent way have been used: electrolysis, thermolysis and the blend method. In this study we describe the removal of hair without side-effects by means of non-laser incoherent emitted light, produced by the ILS flashlamp. In a multicenter study we treated 40 women with a median age of 38.6 years with hirsute hair growth of different hair colours on the upper lip and chin. In general 76.7% of the hair was removed within 6 treatments, with an average fluence of 38.7 J/cm2 and a mean wavelength of 585 nm per patient. A correlation was found between the percentage reduction of hairs and the number of treatments and between hair removal and needle epilation before treatment. Furthermore, a correlation was seen between hair reduction and wavelengths of 570 nm and 550 nm. No association was found between hair removal and clinical data of the patients, nor between hair reduction and technical data of the device. This study presents a new alternative for hair removal.


Subject(s)
Hair Removal/methods , Hirsutism/therapy , Laser Therapy , Adult , Female , Hair Follicle/pathology , Hair Removal/instrumentation , Hirsutism/pathology , Humans , Middle Aged
10.
Arch Dermatol ; 135(6): 679-83, 1999 Jun.
Article in English | MEDLINE | ID: mdl-10376695

ABSTRACT

OBJECTIVE: We investigated whether a noncoherent intense pulsed light source (IPLS) would be effective in therapy of port-wine stains (PWSs). DESIGN: To evaluate the efficacy in treatment of PWSs with IPLS, a retrospective study was initiated. SETTING: The data were collected by physicians working in private practices and departments of university hospitals and medical centers, respectively. PATIENTS: A total of 37 randomly selected patients with a total of 40 PWSs were included in the study. Clinical PWS characteristics recorded were color and location of the PWS. INTERVENTIONS: All patients were treated with IPLS. MAIN OUTCOME MEASURES: Data collected included treatment parameter (filters, pulse duration, fluence, and pulse sequencing), percentage of clearance, and side effects (purpura, blisters, crusting, altered pigmentation, and scarring). RESULTS: Good and complete (70%-100%) clearance was achieved in 28 of 40 PWSs treated with IPLS. The average number of treatment sessions in PWSs reaching 100% clearance included 4.0 for pink PWSs and 1.5 for red PWSs. The average number of sessions for purple PWSs reaching good clearance (70%-99%) was 4.2 sessions. Parameters used most frequently were 515- and 550-nm cut-off filters, pulse duration of 2.5 to 5.0 milliseconds, and fluences of 24 to 60 J/cm2. Side effects included purpura in 133 (76%), superficial blisters in 14 (8%), and crusting in 35 (20%). Transient pigmentation changes were seen in 10.8% of patients (hypopigmentation in 3 [8.1%], hyperpigmentation in 1 [2.7%]). No scarring was observed. CONCLUSION: Intense pulsed light source presents an effective and safe method for treating PWSs, especially purple PWSs.


Subject(s)
Hamartoma/therapy , Phototherapy/methods , Skin Diseases/therapy , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Retrospective Studies
11.
Dermatol Surg ; 24(7): 743-8, 1998 Jul.
Article in English | MEDLINE | ID: mdl-9693668

ABSTRACT

BACKGROUND: Up to now, vascular diseases were treated with various lasers, such as argon, pulsed dye, and copper vapor lasers, which can lead to side effects like hypopigmentations, hyperpigmentations, and scarring. We treated patients with vascular lesions with an incoherent intense light source, the PhotoDerm VL-flashlamp. OBJECTIVE: The aim of the study was to test the effectiveness and safety of the PhotoDerm VL for vascular skin lesions. METHODS: One hundred and twenty patients with facial or leg telangiectasias, spider nevi, erythrosis interfollicularis, and senile angiomas were treated with the PhotoDerm VL. RESULTS: In 73.6% of patients there was an immediate clearing, and in 84.3% a clearing after 1 month was found of leg telangiectasias up to 1 mm in diameter. Facial telangiectasias and erythrosis interfollicularis colli showed clearance up to 90%. Spider nevi and senile angiomas often only needed to be treated once. CONCLUSION: From our experience we conclude that the PhotoDerm VL is an excellent device to treat vascular lesions as there were hardly any side effects seen, however, the user needs a sufficient experience to get good results.


Subject(s)
Laser Coagulation/methods , Lasers , Skin Diseases, Vascular/surgery , Cicatrix/etiology , Cicatrix/prevention & control , Equipment Design , Facial Dermatoses/surgery , Female , Follow-Up Studies , Hemangioma/surgery , Humans , Hyperpigmentation/etiology , Hyperpigmentation/prevention & control , Hypopigmentation/etiology , Hypopigmentation/prevention & control , Laser Coagulation/adverse effects , Leg Dermatoses/surgery , Male , Pigmentation Disorders/surgery , Remission Induction , Safety , Skin Neoplasms/surgery
12.
J Child Neurol ; 13(2): 64-70, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9512305

ABSTRACT

It was the aim of the present prospective study to investigate the influence of age, sex, intellectual function, and school type as well as of hydrocephalus, the level of lesion, and of the degree of handicap on the psychosocial adjustment of children with spina bifida. Seventy-five patients with spina bifida, aged 6 to 16 years were assessed concerning their psychosocial adjustment and their intellectual function by use of standardized instruments. The findings were compared with those of nondisabled controls, matched for age and sex. Children with spina bifida showed a tendency to be at an increased risk for psychosocial maladjustment. Influencing factors were age, sex, and the degree of handicap. Twelve- to 16-year-old boys and girls displayed significant adjustment problems in specific areas in comparison with their controls. There was a tendency for children with spina bifida to be attending inappropriate school types according to their intellectual abilities. Perhaps the most striking finding of our study was that children with spina bifida who attended a school for disabled children, even though it might be an IQ-appropriate setting, had a higher rate of psychosocial maladjustment than the disabled children in mainstream schools.


Subject(s)
Social Adjustment , Spinal Dysraphism/psychology , Adolescent , Child , Female , Germany , Humans , Male , Prospective Studies , Spinal Dysraphism/pathology , Surveys and Questionnaires , Test Anxiety Scale
13.
Hautarzt ; 48(12): 886-93, 1997 Dec.
Article in German | MEDLINE | ID: mdl-9486359

ABSTRACT

By varying the light spectrum, impulse length, impulse sequences and fluences, the PhotoDerm VL allows a large choice of individual treatment parameters. Superficial as well as deeper localized vascular malformations (essential telangiectases, port-wine stains, Poikiloderma of Civatte, hemangiomatous malformations) and cosmetically bothering hypertrichosis can be treated successfully with this high intensity polychromatic pulsed light source.


Subject(s)
Laser Therapy , Phototherapy/instrumentation , Skin Diseases/radiotherapy , Hemangioma/radiotherapy , Humans , Hypertrichosis/radiotherapy , Phototherapy/methods , Port-Wine Stain/radiotherapy , Skin Neoplasms/radiotherapy , Telangiectasis/radiotherapy
14.
Hum Pathol ; 26(6): 601-6, 1995 Jun.
Article in English | MEDLINE | ID: mdl-7774888

ABSTRACT

In a retrospective study of ductal carcinoma in situ (DCIS) of the breast, the expression of the neu oncogene was determined immunohistochemically in 76 women treated by local excision or mastectomy. The histopathological features, including the extent of the lesion, histological subtype, cell type, and number of mitoses, were related to neu overexpression. Immunopositivity was found only in DCIS of large cell type, where it correlated with extent of disease but not with mitotic rate. Our findings, together with previous experimental evidence, suggest that this relationship is a consequence of the effect of the neu protein on cell motility.


Subject(s)
Breast Neoplasms/metabolism , Breast Neoplasms/pathology , Carcinoma in Situ/metabolism , Carcinoma in Situ/pathology , Carcinoma, Ductal, Breast/metabolism , Carcinoma, Ductal, Breast/pathology , Receptor, ErbB-2/metabolism , Carcinoma, Large Cell/metabolism , Carcinoma, Large Cell/pathology , Female , Humans , Middle Aged , Retrospective Studies
15.
Article in English | MEDLINE | ID: mdl-8100656

ABSTRACT

The expression of neu protein in 26 cases of clinging carcinoma (CC) of the breast was investigated. A distinction is made between two types of CC: one with pleomorphic nuclei (PN) and the other with monomorphic nuclei (MN). The PN type of CC overexpresses the neu protein in almost all cases (85.7%), its cells generally exhibit abundant cytoplasm and intraluminal necrosis is frequently observed. The MN type of CC does not overexpress the neu protein, exhibits bland cytological features and shows no necrosis. It is suggested that CC with PN is related to comedo-type carcinoma, while CC with MN is the forerunner of cribriform carcinoma in situ.


Subject(s)
Breast Neoplasms/chemistry , Carcinoma in Situ/chemistry , Carcinoma, Intraductal, Noninfiltrating/chemistry , Proto-Oncogene Proteins/analysis , Adult , Aged , Breast Neoplasms/classification , Carcinoma in Situ/classification , Carcinoma, Intraductal, Noninfiltrating/classification , Female , Humans , Middle Aged , Receptor, ErbB-2
16.
Br J Cancer ; 66(4): 728-34, 1992 Oct.
Article in English | MEDLINE | ID: mdl-1358163

ABSTRACT

In a retrospective study the expression of the c-erbB-2 oncogene was determined immunohistochemically in 276 breast cancer samples from 253 patients with the antibody 21N. The follow-up period was between 7 and 12 years. This study showed a trend for an inverse relationship between c-erbB-2 positive tumours and estrogen receptors (ER). A correlation was assessed between c-erbB-2 positive tumours and histological grade, liver metastases as first site of metastases, disease free survival time (DFS) in the second and third year after diagnosis and overall survival time (OST) in the third and fourth year after diagnosis. A trend was seen between c-erbB-2 positive tumours and tumour size. No correlation was found between c-erbB-2 positive tumours and age at diagnosis. The method of operation and lymph node involvement. From this study we conclude that there is a significant difference in prognosis the first years after diagnosis, but this difference seems to vanish in a longer follow-up period of 12 years. This provides us with an explanation for the discrepancies in literature concerning c-erbB-2 expression and prognosis in breast cancer. Some investigators did not show differences in prognosis between positive and negative cases after a long follow-up period whereas investigations with a short term follow-up period up to 2-3 years have indeed established a more aggressive behaviour of c-erbB-2 overexpressionary tumours.


Subject(s)
Biomarkers, Tumor/analysis , Breast Neoplasms/chemistry , Neoplasm Recurrence, Local , Proto-Oncogene Proteins/analysis , Proto-Oncogenes , Adult , Aged , Aged, 80 and over , Breast Neoplasms/genetics , Breast Neoplasms/mortality , Female , Humans , Male , Middle Aged , Neoplasm Metastasis , Prognosis , Receptor, ErbB-2 , Retrospective Studies , Survival Rate , Time Factors
17.
J Clin Endocrinol Metab ; 70(3): 638-41, 1990 Mar.
Article in English | MEDLINE | ID: mdl-2137831

ABSTRACT

Pseudohypoaldosteronism is a rare hereditary disorder presenting in early infancy with renal salt loss leading to hyponatremia and hyperkalemia despite high levels of plasma aldosterone. The patients are insensitive to mineralocorticoids; however, sodium supplementation is able to correct electrolyte abnormalities. Absent or greatly diminished type I aldosterone receptors in peripheral mononuclear leucocytes have been recently demonstrated and explain the lack of response to mineralocorticoids. We have studied the mode of inheritance in eight families with a total of nine patients. There was evidence for an autosomal recessive form of inheritance in four families, while the other four families appeared to have an autosomal dominant mode of transmission. In three families the autosomal recessive form was characterized by normal receptor as well as hormone data in both parents, while in one family receptor levels in both parents were greatly reduced, but hormone levels were normal. In the four families with an autosomal dominant mode of transmission there was always one parent with reduced receptor binding in peripheral mononuclear leucocytes and elevated serum hormone levels. These parents were entirely asymptomatic. In an extended family we were able to study an aunt and her newborn daughter, who were both also biochemically affected but clinically asymptomatic. It, therefore, appears that this dual pattern of genetic transmission may indicate differing genetic defects which cause the same clinical picture of pseudohypoaldosteronism.


Subject(s)
Pseudohypoaldosteronism/genetics , Renal Tubular Transport, Inborn Errors/genetics , Adolescent , Adult , Aldosterone/blood , Aldosterone/therapeutic use , Child , Female , Humans , Leukocytes, Mononuclear/analysis , Male , Middle Aged , Pedigree , Pseudohypoaldosteronism/blood , Pseudohypoaldosteronism/drug therapy , Receptors, Glucocorticoid/blood , Receptors, Glucocorticoid/genetics , Receptors, Mineralocorticoid , Renin/blood , Sodium Chloride/therapeutic use
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