Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.
This research has conducted studies on an Oriental medicine-based method of diagnosing of occupational musculoskeletal system diseases. This researcher has searched through existing relevant medical literature. Also, this researcher has worked on a moire topography using moire topography. In this course, this researcher has reached the following conclusion in relation to the possibility of using a moire topography as a diagnosing device of musculoskeletal system diseases under Oriental medicine . 1 The Western medicine outlines its criteria of screening occupational musculoskeletal system diseases as follows A. The occupational musculoskeletal diseases must clearly include one or more of the subjective symptoms characterized by pain, hypoesthesia dysaesthesia, anaesthesia. etc . B, There should be clinically admitted objective observations and diagnosis outlining that the disease concerned shows symptoms such as tenderness, induration. and edema that can appear with occupational musculoskeletal system diseases. dyscinesia should be admitted with the disease concerned, or there should be observations and diagnosis outlining that abnormality exists in electric muscular or nervous diagnosis and examination . C. It should be admitted that prior to the occurrence of symptoms or observations and diagnosis on musculoskeletal system-related diseases, a patient has been engaged in works with conditions requiring improper work posture or work movement. That is, this is an approach whereby they see abnormality in the musculoskeletal system come from material and structural defect, and adjust and control abnormality in the musculoskeletal system and secreta . 2. The Oriental medicines sees that a patient develops the pain of occupational musculoskeletal diseases as he cannot properly activate the flow of his life force and blood thus not only causing formation of lumps in the body and blocking the flow of life force and blood in some parts of the body. Hence, The Oriental medicine focuses on resolving the cause of weakening the flow of life force and blood, instead of taking material approach of correcting structural abnormality Furthermore , Oriental medicine sees that when muscle tension builds up, this presses blood vessels and nerves passing by, triggering circulation dyscrasia and neurological reaction and thus leading to lesion. Thus, instead of taking skeletal or neurophysiological approach. it seeks to fundamentally resolve the cause of the flow of the life force and blood in muscles not being activated. As a result Oriental medicine attributes the main cause of musculoskeletal system diseases to muscle tension and its build-up that stem from an individual's long formed chronicle habit and work environment. This approach considers not only the social structure aspect including companies owners and work environment that the existing methods have looked at, but also individual workers' responsibility and their environmental factors. Hence, this is a step forward method. 3 The diagnosis of musculoskeletal diseases under Oriental medicine is characterized by the fact that an Oriental medicine doctor uses not only photos taken by himself, but also various detection devices to gather information and pass comprehensive judgment on it. Thus, it is the core of diagnosis under Oriental medicine to develop diagnosing devices matching the characteristics of information to be induced and to interpret information so induced from the views of Oriental medicine. Diagnosis using diagnosing devices values the whole state of a patient and formal abnormality alike, and the whole balance and muscular state of a patient serves as the basis of diagnosis. Hence, this method, instead of depending on the information gathered from devices under Western medicine, requires devices that provide information on the whole state of a patient in addition to the local abnormality information that X-ray. CT, etc., can offer. This method sees muscle as the central part of the abnormality in the musculoskeletal system and thus requires diagnosing devices enabling the muscular state. 4. The diagnosing device using moire topography under Oriental medicine has advantages below and can be used for diagnosing musculoskeletal system diseases with industrial workers . First, the device can Provide information on the body in an unbalanced state. and thus identify the imbalance and difference of height in the left and right stature that a patient can not notice at normal times. Second, the device shows the twisting of muscles or induration regions in a contour map. This is not possible with existing shooting machines such as X-ray, CT, etc., thus differentiating itself from existing machines. Third, this device makes it possible for Oriental medicine to take its unique approach to the abnormality in the musculoskeletal system. Oriental medicine sees the state and imbalance state in muscles as major factors in determining the lesion of musculoskeletal system, and the device makes it possible to shoot the state of muscles in detail. In this respect, the device is significant. Fourth, the device has an advantage as non-aggression diagnosing device.
In order that, investigating the feature of patients suffering arthritis, analysing its contents, and grasping a Primary factor affecting it, I might offerbasic datas which could help to plan and perform healthy affairs to thake precautions beforehand, I have investigated, analysed, and studied a total of 320 patients suffering arthritis, who have received physiotherapy in hospital located in Teaegu area for five months, from November 1 1995 to March 30 1996, of which summary and conclusion is this. 1. The general feature of patients in investigative objects In the distribution of the distinction of sex, men accounted for 26.9% and women, for 73.1%, and, in the fistribution of age, 60-year-old or more, most for 27.2% and from 20 to 29 years old, least for 14.0%. In the distinction of a vocation, housewives most accounted for 34.7% and students(jobless men), least for 19.3%. In the distinction of a matrimonial state, married persons most accounted for 76.7% and people living alone(divorce, separation by death, separation), least for 11.4%. In the distinction of an economic state, the middle classes most accounted for 73.5% and the upper classes, least for 2.9%. In the distinction of their academic careers, graduates of a primary school most accounted for 26.9% and graduates of university, for 14.1%, of which patients, having the ability to decode the national language, reached to 11.3%. In the distinction of the house form, people living in independent houses most accounted for 76.4% and residents in apartment(having an elevator), least for 9.4%. 2. In the distribution of the recurring state in the distinction of the feature, the recurring group was more than the group of patients falling that ill at first as 62.2% and in the distinction of the feature of the recurring group, the recurring group turned high in case of men being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), students (joblessmen), people working in farming, stockbeeding, forestry, fisheries, a simple labour, graduates of a primary school I having the ability to decode the national language, the upper classes, people part two years since they begined to suffer arthritis, people who had members having ever experienced arthritis among families. 3. In the distribution of arthritis on the distinction of bodily pars, a knee articulation most accounted for 50.2% and the articulation of fingers, for 8.8%, wile the simultaneous, several parts (multiple) accounted for 35.1%. In the distinction of the feature, arthritis of a knee turned high in case of men being from 20s to 30s years old, unmarried persons, people having academic careers of university, the middle classes, residents in apartment (having stairs). In the dictnction of a feature the case of several parts (multiple) turned high in case of women being from 50s to 60s years old or more, people living alone (divorce, separation by death, separation), people having the ability to decode th. national language, the graduates of a primary school, the upper classes, residents in apartment (having elevator). 4. In the distribution of arthritis on e distinction of a contracting term, two years or more most accounted for 51.6% and the case of contacting from one year to two years, for 15.3%. Analysing the distinction of the feature, the case of two years or more turned high in case of women being from 50s to 60s years old or more, people living alone (divorce separation by death, separation), the upper classes, people having the ability to decode the national language, residents in apartment (having elevator). 5. In the distribution of an treatment institution before patients came to help, their not curing most accounted for 39.1%, general, orthopedic, neurological surgery (physical therapy), for. 20.0%, and th. therapy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), for 17.5%, and a pharmacy (medical therapy), for 13.4%. The case of patients not curing, in the distinction of a feature, turned high in case of men 20s years old, unmarried, the lower classes, people having academic careers of university, residents in apartment (having elevator). 6. In e distribution of the extent of satisfaction with treatment, common most accounted for 54.4% and some satisfaction, for 32.8%. The case of common, in the distinction of a feature, turned high, in case of men living alone from 50s to 60s years old (divorce, separation by death, separation), married persons, the upper classes, people having academic careers of university, residents in independent house, residents in apartment (having elevator), 7. In the distribution of the degree of knowledge of the cause of arthritis, patients knowing that the cause is to use very much a articulation in normal times most accounts for 60.1%, and patients knowing the state of short nutrition as a cause, for 2.5%. The case of patients knowing that the cause is to use very much in normal times, in the distinction of a feature, turned high in·case of ment being 20s and 60s years old or more, unmarried persons, e lower classes, people having the ability to decode. the national language, people having academic careers of university, residents in apartment (having stairs), 8. In the distribution of the state of physical exercise before arthritis contracted, patients exercising very much on the whole most accpimend for 40.3%, and patients not exercising, for 34.7%. The case of patients exercising very much on the whole, in the distinction of the feature, turned high in case of men being from 50s to 60s years old or more, people living alone(divorce, separation by death, separation), the lower classes, people having the ability to decode the national language, graduates of a primary school, residents in apartment (having elevator). 9. In the taste of patients suffering from arthritis, while the group of patients falling that ill at first and the recurring group didn't smoke cigarets, during alcohol and coffee on the whole, and the group of patients falling once again that ill drank a cup of distilled linquor and three cup of coffee or more on the whole per one day, and the group of patients falling that ill at first liked sort of vegetables and the recurring group liked very much sons of vegetables and fresh and meat in their loving food normal times. 10. Analysing the distribution on the dining table used by patients and the structure of a powder room, at first, in the structure of a powder room, the group of patients filling that ill have a toilet stool using as their sits, and a Bush toilet on the whole, and the recurring group, a toilet stool using as their sits and conventional type, and in the structure of a dinning table, the group of patients falling that ill at first and the recurring group turned high, each as 66.9% and 6.3%, who have a dining table carring here and there. 11. In the distribution of patients of arthritis in relation to stress, the case that they feeled severly symptoms of arthritis when thay got stress, turned high, each, as 78.6% in the recurring poop, and the case not knowing, as 61.5% in the first group. In the extent of stress normal times, the case that they got much stress on the whole turned high, each, as 72.4% in e recurring group, and the care that got less stress on the whole, as 60.0%. 12. In the distribution on the distinction of symptoms and impedimental extent, the recurring group turned high in each variable. Analysing the feature of the recurring group, in the distinction of symptoms, the case that they fooled much that the node of an articulation is stiff, turned high, as 71.6, and in the distinction of treatment before. patients came to helpk, the theraphy of Chinese medicine (physical theraphy), as 84.4%, the theraphy of Chinese medicine (acupuncture, moxacautery, Chinese medicine), as 73.2%, and in the distinction of the satisfing extent on treatment, the case of comman, as 72.3%, and in the cause of arthritis, the case not recruiting their health after a birth, as 68.5%, and the case not recovering wholely an articulation having got hurt, as 62.8%, and in the state of physical exercise before they begined suffering from arthritis, the case exercising very much on the whole, (as 74.2%), and in the extent of subjective impediment, the case of not being able to act almost, as 66.7%, the case of acting but feeling some hard, as 66.3%. 13. The correlation in variables in relation to arthritis Analysing realted variables, the recurring frequency showed correlation with such as the extent that patients got stress normal times, and the exercising state before suffering arthritis, and showed contra-correlation with academic careers, the wights, coffee. The cigaret, e loving food of taste, showed corralation with the weight, stature, alcohole as the loving food of taste. On the basis of this result medical members of heal, who are related to the regular education, public education or development of this program, should be concerned to prevent orthris.
These studies were aimed at clarification of genetic and ecological variation in culm length, panicle length and plant height of the