A classification of genes involved in normal and delayed male puberty / 亚洲男科学杂志(英文版)

Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability. It is a major transformational period of life, whose timing is strongly affected by genetic makeup of the individual, along with various internal and external factors. Although the exact mechanism for initiation of the cascade of molecular events that culminate in puberty is not yet known, the process of pubertal onset involves interaction of numerous complex signaling pathways of hypothalamo-pituitary-testicular (HPT) axis. We developed a classification of the mechanisms involved in male puberty that allowed placing many genes into physiological context. These include (i) hypothalamic development during embryogenesis, (ii) synaptogenesis where gonadotropin releasing hormone (GnRH) neurons form neuronal connections with suprahypothalamic neurons, (iii) maintenance of neuron homeostasis, (iv) regulation of synthesis and secretion of GnRH, (v) appropriate receptors/proteins on neurons governing GnRH production and release, (vi) signaling molecules activated by the receptors, (vii) the synthesis and release of GnRH, (viii) the production and release of gonadotropins, (ix) testicular development, (x) synthesis and release of steroid hormones from testes, and (xi)the action of steroid hormones in downstream effector tissues. Defects in components of this system during embryonic development, childhood/adolescence, or adulthood may disrupt/nullify puberty, leading to long-term male infertility and/or hypogonadism. This review provides a list of 598 genes involved in the development of HPT axis and classified according to this schema. Furthermore, this review identifies a subset of 75 genes for which genetic mutations are reported to delay or disrupt male puberty.

Lateral mass screw fixation in cervical spine injury

Objective: To determine clinical outcome in patients with cervical injury after lateral mass screws fixation in a tertiary care hospital

Methods: This study included 88 patients, with cervical injury confirmed radiologically. Patients <12 or >70 years, with traumatic discs, cord compression without subluxation and previously operated on cervical spine were excluded from this study. All patients underwent fixation with lateral mass screws through posterior approach under fluoroscopic guidance. Frankel grading was used to assess the clinical status of these patients pre-operatively and post-operatively

Results: There were 60[68.18%] males and 28[31.8%] females. The ages varied from 18 to 55 years with a mean of 32 yrs +/- 8 yrs. The most common level of injury was C5-C6 in 46[52%] patients. According to Frankel grading system, 35 [39.8%] patients were placed in Grade A, 15[17.05%] in Grade B, 22[25%] in Grade C, 12 [13.6%] in Grade D, four [4.5%] in Grade E on admission. Postoperatively, 16 [18.2%] patients were placed in Grade A, 23 [26.1%] in Grade B, eight [9.1%] in Grade C, nine [10.2%] in Grade D and 26[29.6%] patients in Grade E with an overall improvement in neurological function in 51[58%] and power in 37[42%] patients. The major complications encountered were respiratory infections in 10[11.36%] and wound infection in four [4.5%] while eight [9.1%] patients expired

Conclusion: Lateral mass screws technique is a safe and effective method for cervical fixation after proper reduction

Outcome of burr-hole aspiration of brain abscess

Objective: To determine the clinical outcome of burr-hole aspiration of brain abscess

Methods: We analyzed 100 cases of intracranial abscess, treated surgically from January 2015 and October 2016 at Jinnah Postgraduate Medical Centre [JPMC]. All patients were treated with burr hole aspiration. Medical records were analyzed for demographics, clinical presentation, predisposing factors, abscess location on imaging and clinical outcomes were charted

Results: The study included 100 patients with 73 [73%] males and 27[27%] females with a mean age of 36.69+10.96 years. Mean duration of signs and symptoms was 8.50+/-4.2 days. The most common presenting complaint was altered sensorium in 70 [70%] patients and commonest source of infection was otitis media een in 27 patients [27%]. The GCS on presentation was 13 in 57 [57%] cases. The parietal region was the most common site in 43 patients [43%], followed by frontal region in 33 patients [33%].Complete resolution of abscess with recovery of preoperative neuro-deficit was seen in 77 [77%] patients and recovery with major neuro-deficit was observed in 10 [10%] cases while 13 [13%] patients expired

Conclusion: Early diagnosis, optimum follow-up and timely burr-hole aspiration are the keys in the proper management of brain abscess

Cranial neurosurgery without removing scalp hairs

Objective: to find out rate of wound infection, difficulties encountered and patient's satisfaction with scalp hair preservation during cranial surgeries

Study design: descriptive case series

Place and Duration of Study: Ziauddin University Hospital Karachi Clifton campus, from January 2013 to June 2014

Methodology: the hair cleaning and scrubbing procedure was done at the time of surgery with pyodine solution. Scalp shaving was not done. Routine surgical incision was made. Surgical wound was closed with a standard technique. Dressing was not applied. Exclusive traumatic lacerated extensive scalp wounds and cranioplasties cases were also included. Scalp hairs were shampooed postoperatively after 48 hours. The wounds were checked at outpatient follow-up on week 2, week 4 and then monthly for at least 3 months following discharge

Results: a total of 86 patients were operated without shaving scalp hairs. There were 55 females and 31 male patients. Average age was 45.5 year. The procedures included were craniotomies for traumatic intracranial hematomas, tumors, hypertensive intracerebral hematomas, burr hole procedures for chronic subdural hematomas and placement of ventriculoperitoneal shunts. Technical difficulties were posed by very short and coarse hairs. Infection rate was less than 0.86%. All of the patients were happy and satisfied with their appearance after surgery

Conclusions: Scalp hair preservation in cranial surgeries neither increased risk of postoperative wound infection nor made surgery difficult. The technique resulted in greater patients' satisfaction and good cosmetic outcome

Distribution of blood groups in population of Lehtrar road Islamabad

To determine the frequency of various blood groups in the population of Lehtrar road Islamabad and to compare the results with national and international studies. This cross sectional observational study was conducted at Rawal Institute of Health Sciences [RIHS], from Nov 01, 2011 till Nov 30, 2012. A total of 1,739 subjects including both male and females were analyzed. Blood was collected and ABO and Rh blood groupings were carried out by standard tube method using commercially prepared antisera and frequency of ABO and RhD blood groups was determined. Among ABO blood groups the most frequent was B [33.5%], followed by O [31.3%], A [22.5%] and AB [12.41%], group respectively. Among Rh +ve cases, blood group B was the most frequent with 542 [31.1%] individuals; however among Rh -ve individuals the most frequent blood group was O [63[3.6%]]. The current study revealed that blood group B is the most frequent blood group among the ABO blood group system with dominant RhD positivity in this region

Morphological and immunofluorescent patterns of subepidermal autoimmune bullous diseases of skin in Karachi Pakistan

Subepidermal autoimmune blistering disorders [SEABD] are common in dermatological practice. Direct immunoflourescence [DIF] staining is considered gold standard for the diagnosis of these disorders. The study was conducted to determine the morphological and DIF patterns of these disorders. Retrospective Study. This study was conducted at the department of Pathology, Basic Medical sciences Institute, Jinnah Postgraduate Medical centre, Karachi, from January 2002 to July 2007. Morphological and DIF patterns were recorded and categorical diagnoses of these disorders were established. Bullous permphigoid [BP] was found to the most frequent disorder with a relative frequency of 60.71% and mean age of 54.82 years. Relative frequencies of childhood bullous pemphigoid [Ch BP], dermatitis herpetiformis [DH], chronic bullous dermatosis of childhood [CBDC] and herpes gestationis [HG] were 10.71%, 14.28%, 10.71% and 3.57% respectively. Direct immunofluorescent staining is one step procedure that should be done in all cases of SEABD. Use of salt split technique and immune electron microscopy would further enhance the level of certainty in SEABD

Evaluation of protective role of benzodiazepine in noise stress induced activation of hypothalamo-pituitary adrenal axis in albino rats

Noise, whether pleasant or not, is ever present in nature. Not much work can be done without noise, in the industries, fish market, social gatherings; it is constantly in the background. Thought it seems harmless loud and or prolonged exposure to noise can cause health problems to the populace. Noise, as a recognized stressogenic factor, has been postulated to stimulate the HPA axis leading to the release of stress hormones. The present study was designed to assess the changes occurring in the level of stress hormones [ACTH and Corticosterone] in albino rats when acutely [24 hrs] exposed to loud noise with subsequent ameliorating effects of benzodiazepine [Valium/ Diazepam] which will given to the rats to alleviate the symptoms of stress. Prospective Experimental Study. This study was conducted in the Department of Anatomy, JPMC, Karachi from Jan 2006 to June 2008. Three groups of 10 rats labeled A, B and C serving as control [no noise], noise stress [24hrs] and noise stress [24hrs] with diazepam [5mg/kg] respectively. The groups B and C were exposed to white noise at 100 dB. At the end of study the animals were sacrificed and their mean plasma concentration of ACTH and corticosterone were measured. A highly significant increase in mean plasma concentration of ACTH [150.90 +/- 14.71 pg/ml] and corticosterone [5.72 +/- 5.75 pg/ml] and corticosterone [1.75 +/- 0.25 micro/dl] concentration of control animals. This increase was significantly ameliorated by pre treatment of diazepam. Our study shows the protective role of diazepam in stress induced by noise

Use of direct immunofluorescent microscopy in the diagnosis of vesiculobullous disorders of skin

To determine the relative frequencies of various vesiculobullous disorders of skin in our patients and the morphological and direct immunofluorescent patterns of these disorders. This retrospective study was carried out in the Department of Pathology, Basic Medical Sciences Institute, Jinnah Postgraduate Medical Centre, Karachi, Pakistan on all the cases of vesiculobullous disorders of skin diagnosed in the department from January 2002 to June 2007. All the skin biopsies received during the study period were reviewed and cases of vesiculobullous disorders were selected for detailed study. Direct immunofluorescent [DIF] staining was done on these cases using fluorescein isothiocyanate conjugate [FITC] labelled antibodies for IgG, IgA, IgM, C3c and Fibrinogen. The data was analysed statistically using SPSS software. A total of 62 DIF proven cases of vesiculobullous disorders of skin were studied. Pemphigus vulgaris [PV] was found to be the most frequent disorder [32.25%] followed by bullous pemphigoid [BP] with a frequency of 27.42%. The relative frequencies of pemphigus foliaceus [PF], dermatitis herpetiformis [DH], childhood bullous pemphigoid [CBP] and chronic bullous dermatosis of childhood [CBDC] were 20.96%, 6.45%, 4.83% and 6.45% respectively. One case each of IgA pemphigus [IgAP] and herpes gestationis [HG] were seen. IgA pemphigus can only be diagnosed after having observed the immunofluorescence pattern of this disorder. Definitive diagnosis of certain blistering lesions of skin requires the DIF microscopy. However, in special circumstances it needs to be reinforced with either salt split skin technique or immune electron microscopy

Morbidity pattern and utilization of a primary health care center in a low socioeconomic area of Karachi

To identify the morbidity pattern according to age, gender and seasonal variation using the ICD coding and the utilization of Primary Health Care [PHC] center services in a demographically defined community. The data collected from 2001-2003 was analyzed using the International Classification of Diseases - 10 [ICD-10] coding for identifying the morbidity patterns presenting at the PHC Center. The age and gender distribution of the patients and the seasonal variation of few diseases were noted. Only the residents of the area visiting the center for preventive or curative services were included. A structured performa was designed to enter the age, gender, disease and ICD codes. The faculty was trained for using the coding system. A total of 13,519 patients visited the PHC during three-year period. On an average, 376 patients were seen during a month with male to female ratio of 1:2. The most common diseases presented belong to the respiratory system, followed by infections or parasitic infestations and diseases of the reproductive system. The women presented for first visit of antenatal check up were 960 out of 4614 women of reproductive age group. Among the adult population, 391 [6%] presented with hypertension, 64 [1%] were Type 2 diabetics and 86 [1.3%] were asthmatics. The paediatric population analysis showed that 918 [13%] had upper respiratory infections and 1339 [19%] had diarrhoea. Problem oriented medical records from health centers, computerized in a uniform standardized way, can give extensive information about the content and burden of health problems in family practice and presumably public health

Hydrocephalus in children

The word "hydrocephalus" is derived from two Greek words: hydro meaning water; and cephalus meaning head; also known as "water on the brain". Historically it is believed to result from imbalance between CSF production and absorption, with net accumulation of fluid in the cranial cavity; characterized by increase in size of the cerebral ventricles. It is classified as: Communicating hydrocephalus, in which flow is not obstructed, but CSF is inadequately reabsorbed in the subarachnoid space and the Non-communicating hydrocephalus or the Obstructive type, in which flow of CSF from the ventricles to subarachnoid space is obstructed. This type may also be sub-classified into Congenital and Acquired. The overall incidence of hydrocephalus is not known. Approximately 55% of all hydrocephalus are congenital. The etiology depends upon the age of the child. The clinical features are increase in the size of head, with wide anterior fontanelle, prominent scalp veins, sun-setting eyes, optic nerve atrophy, nystagmus and increased muscle tone in children upto 2 years. Children more than 2 years may present with these as hydrocephalus progresses; or if the fontanelles are closed, head size may be normal. These may present with optic atrophy or papilloedema, abnormal hypothalamic functions [short stature or gigantism, obesity, delayed puberty, primary amenorrhea or menstrual irregularity and diabetes inspidus] and spastic lower limbs. Performance IQ is worse than verbal IQ and learning problems are common. The diagnostic procedures include measurement of head circumference, Plain X ray of head, Ventriculography, Pneumoencephalography, Ultrasonography, Computed Tomography and Magnetic Resonance Imaging. The management may be non-surgical and surgical

Knowledge of students regarding hepatitis and HIV/AIDS of a private medical university in Karachi

To determine and assess the level of awareness among students of a private medical college regarding HIV/AIDS, Hepatitis B and C. A survey was conducted to assess the awareness of medical students on HIV/AIDS, hepatitis B and C. They were asked to fulfill a pre-tested structured questionnaire. The variables accessed were their knowledge of disease regarding etiology, mode of transmission, and prevention. A total of 267 students participated, with 117 [43.8%] students from pre-clinical years and 150 [56.2%] from the clinical years. The male female ratio was 1:2, mean age of respondents was 21 + 1.5 years. Majority of the students [98%] agreed that an infected person is a major source of transmitting these infections. Almost all [95%] students knew that blood transfusion was an important source of transmitting these infections. Wearing gloves [87%] and safe disposal of sharps waste [98%] were known by the students to be the ways to protect against these infections. A significant difference was noted on comparing the knowledge between preclinical and clinical students regarding medical / surgical procedures causing these infections [p<0.001] and also regarding the ways to protect against these diseases [p=0.001]. There is a lack of awareness among the medical students entering into the profession. It is the need of the hour to emphasize on practicing universal precautions. In addition, some preventive measures should be taken by the management of the universities and medical students to avoid the occurrence of these problems

Risk factors assessment for hypertension in a squatter settlement of Karachi

To assess the risk factors for hypertension in adults [age more than 15 years] in a squatter settlement of Karachi. Cross-sectional survey of adults more than 15 years old in a squatter settlement of Karachi through random sampling method. A total of 327 adults were approached, 165 [50.5%] were males and 162 [49.5%] females. Blood pressure was measured in 63 [38%] males and 135 [83%] females. Out of which, 11 [17.5%] males and 19 [14%] females were screened hypertensive. Hypertensives were older as compared to normotensives [p<0.001]. The mean BMI of hypertensives [25.6 + 4.5 kg/m2] was significantly higher [p=0.008] than normotensives [22.9 + 5.0 kg/m2]. Hypertensives were 9.7 times more likely to be diabetic as compared to normotensives in this study [p<0.001]. On analyzing the relationship of hypertension with other variables, no significant difference was noticed for education [p=0.68], smoking status [p=0.46], family history [p=0.31] and occupation [p=0.27]. Prevention and control of hypertension is essential as the life expectancy is increasing in developing countries as well. The main emphasis according to this study, should be on controlling the BMI through weight reduction and regular exercise. Awareness about the risk factors for hypertension among the population is required to decrease the double burden on the society

Assessment of patients with hypertensive intracerebral hemorrhage at a tertiary care hospital, Pakistan

The assessment of outcome in admitted patients with hypertensive intracerebral hemorrhage in a tertiary care hospital on the basis of GCS and CT scan.The cases of hypertensive intracerebral hemorrhage admitted to neurosurgery department of a tertiary care hospital during the year 2004 were included in the study. Those with cerebral infarction, recurrent hematoma, or hemorrhage due to non-hypertensive causes were excluded. The parameters assessed included age and sex of the patient, associated comorbids like DM and IHD, GCS on admission, CT scan findings, management and outcome. A total of 84 cases with hypertensive bleed were analyzed, of which 52 [62%] were between 30-60 years and 32 [38%] were more than 60 years of age with equal sex distribution. Statistically significant association was observed between co-morbidity and outcome of patients [p 0.00 1], between CT scan findings and management [p 0.006], between management and outcome [p=0.02]. Management and outcome of hypertensive ICH is dependent on multiple factors like age of the patient, co-morbidity, CT scan findings and GCS. These are some of the direct predictors of assessing ICH. The aim should be to prevent such incidents secondary to hypertension

Subarachnoid haemorrhage; evaluation by CT scanning

25 patients of Subarachnoid Haemorrhage between the ages of 39 to 70 years were studied over a period of 3 years [Jan, 1998 to Dec, 2001] out of which 92% patients had classical Subarachnoid Haemorrhage on CT and 8% did not show any definite SAH. CT scan is quite helpful in Subarachnoid Haemorrhage diagnosis and there after the proper management of the disease.

Colour doppler ultrasound; A useful diagnostic tool for venous imaging

The incidence and prevalence of venous thrombosis can only be estimated as most episodes go undetected clinically. Venous Thromboembolism [VTE] is a major source of emboli in 95% cases of pulmonary embolism [P.E], which in tuner is one of the leading causes of death in patients dying undetected. This study was carried out in the Department of Radiology and Ultrasound at Allied Hospital, PMC Faisalabad for a period of 8 months and total number of cases are 100. The objective was to evaluate the case of VTE and their squealae by using Colour Doppler studies. The result was that colour doppler sonography and colour enhanced technique has improved the sensitivity of blood flow detection