Morphometric analysis of vastus medialis oblique muscle and its influence on anterior knee pain / 대한해부학회지

Healthy knees require full range squatting movements. Vastus medialis (VM) muscle regulates and adjusts the extensor apparatus that inf luences the patellofemoral function. This work was designed to investigate the anatomy and morphometry of vastus medialis oblique (VMO) muscle by widely used imaging techniques and investigate how VMO muscle participates in anterior knee pain. Ten dissected cadaveric specimens were examined, focusing on fiber orientations, origin, insertions and nerve supply of VMO muscle. Magnetic resonance imaging and ultrasound of VMO muscle were recorded. Anatomical cross-sectional areas of VMO muscle were determined in painless and painful knees and statistically analyzed. In cadaveric specimens, there was distinct separation between VM longus and VMO (change in fiber angle or fibrofascial plane). VMO inserted directly into the medial proximal margin of the patella, capsule of the knee joint and continuous with the patellar tendon. Separate branch of femoral nerve run along the anteromedial border of the muscle. Anatomical cross-sectional area was significantly decreased in painful knee by –17.2%±11.0% at lower end of shaft of femur, –21.1%±6.0% at upper border of patella, –36.7%±11.0% at mid-patellar level. VMO is distinct muscle within quadriceps femoris group. VMO muscle would track the patella medially and participate in last phase of knee extension. Assessment of the VMO muscle anatomical cross-sectional area by ultrasonography may constitute promising and reliable tool to evaluate patellofemoral pain syndrome staging.

Morphometric analysis of vastus medialis oblique muscle and its influence on anterior knee pain / 대한해부학회지

Healthy knees require full range squatting movements. Vastus medialis (VM) muscle regulates and adjusts the extensor apparatus that inf luences the patellofemoral function. This work was designed to investigate the anatomy and morphometry of vastus medialis oblique (VMO) muscle by widely used imaging techniques and investigate how VMO muscle participates in anterior knee pain. Ten dissected cadaveric specimens were examined, focusing on fiber orientations, origin, insertions and nerve supply of VMO muscle. Magnetic resonance imaging and ultrasound of VMO muscle were recorded. Anatomical cross-sectional areas of VMO muscle were determined in painless and painful knees and statistically analyzed. In cadaveric specimens, there was distinct separation between VM longus and VMO (change in fiber angle or fibrofascial plane). VMO inserted directly into the medial proximal margin of the patella, capsule of the knee joint and continuous with the patellar tendon. Separate branch of femoral nerve run along the anteromedial border of the muscle. Anatomical cross-sectional area was significantly decreased in painful knee by –17.2%±11.0% at lower end of shaft of femur, –21.1%±6.0% at upper border of patella, –36.7%±11.0% at mid-patellar level. VMO is distinct muscle within quadriceps femoris group. VMO muscle would track the patella medially and participate in last phase of knee extension. Assessment of the VMO muscle anatomical cross-sectional area by ultrasonography may constitute promising and reliable tool to evaluate patellofemoral pain syndrome staging.

Human myometrial interstitial cajal like cell [Telocyte] in preterm and full term labour: histological and immunohistochemical studies

Introduction: Preterm labour is a common obstetric problem. The human myometrium is formed of two types of cells namely smooth muscles and interstitial Cajal like cells or telocytes which express both estrogen and progesterone receptors

Aim of the work: This study aimed to know how many telocytes are present in the pregnant uteri at time of labour in the different gestational ages and the possible role of telocytes in preterm labour

Patients and methods: 10 pregnant women were included in the study planned to do cesarean section. They were divided into two groups: Group I: included 5 cases whose gestational age was less than 37 weeks [preterm]. Group II: included 5 cases whose gestational age was more than 37 weeks [full term]. Specimens were obtained from the myometrium at the time of the operation and processed for histological and immunohistochemical study

Results: H and E stained sections revealed hypertrophied smooth muscle fibers with different orientations. Methylene blue stain revealed telocytes between the smooth muscle fibers as a branched cell with small cell body and thin long processes. CD 117 [ckit] immunostaining revealed an apparent increase in the number of telocytes in preterm cases [Group I] compared to full term cases [Group II]. Morphometric study revealed a significant increase in the number of ckit positive telocytes in preterm cases compared to the full term one

Conclusion: Telocytes are present in the pregnant uteri at different gestational ages with a significant increase in their number in the preterm cases; they may have a possible role in preterm labour

Treatment-induced copper deficiency in two patients with Wilsons disease

Copper is an essential trace element that is vital to the health of all living cells. However, like all essential elements, its serum level must be kept within normal values; otherwise, conditions of toxicity or deficiency can result, each of which has its own unique set of adverse health effects. Wilson's disease [WD] is an inherited disease of copper accumulation that can cause liver and neurological affection. Its management depends on removal of excess copper using copper chelators such as D-penicillamine or trientine, which increase the urinary excretion of copper. In a more recent approach, zinc has been used to decrease copper accumulation. We present two WD cases that developed copper deficiency as a result of their treatment. These cases improve our understanding and management of copper deficiency in WD and highlight the importance of copper-level monitoring in WD

Histopathological insight on malathion induced nephropathy which is ameliorated by antioxidants USE; an animal model

Background and aims: Malathion induced nephro-toxicity is a challenging process, several mechanisms were contributed. The present study was designed to evaluate the histopathological changes evoked by malathion in renal tissue compared to those induced by malathion plus antioxidants, to clarify the underlying mechanisms, using immunohistochemical staining of proliferating cell nuclear antigen [PCNA] and CD34

Methods: Forty adult male albino rats were divided into four equal groups. Group 1; control. Group 2 received malathion [27 mg/kg/day] orally. Group 3 received malathion plus vitamin E [400 mg] once/day, orally. Group 4 received malathion plus vitamin C [100 mg,] once/day, orally. Animals of all groups were sacrificed after 2 months. Histopathological assessment [H and E and Masson 's trichrome], PCNA and CD34 immunostaining were performed to all groups

Results: Group 2 showed a spectrum of histopathological changes; collapsing glomerulopathy with focal sclerosis, degenerative tubular changes and diffuse vascular congestion. Both groups 3 and 4 showed marked reduction of previous changes. Masson 's trichrome stained sections showed more collagen deposition in group 2 compared to groups 3 and 4. Group 2 revealed a decrease in the mean number of total PCNA positive cells [20. 8 +/- SD 5.7] [P< 0. 001] compared to control group. Groups 3 and 4 showed high significant increase in the mean number of total PCNA positive cells [31.3 +/- SD 5.7 and 31.2 +/- SD7.8] [P<0.001 and 0.004, respectively]. CD 34 immunoslaining of group 2 showed negative to minimal expression compared to moderate to strong intensity of groups 3 and 4

Conclusion: Malathion can induce a unique pattern of collapsing glomerulopathy with wide spectrum of histopathological changes. Podocytopathy is the main insult which began with podocytes proliferation and hypertrophy and ended by podocytopenia and glomerular sclerosis. The antioxidant use [vitamins E and C] provides a protective role against the previous nephrotoxic changes. PCNA imnmunostaining highlighted the role of injured podocytes while CD34 ascertained the structural and/or antigenic alteration of endothelial cells in collapsing glomnerulopathy

Maternal MTHFR C677T genotype and septal defects in offspring with Down syndrome: a pilot study

While abnormal folate/homocysteine metabolism has been implicated as an etiology for the development of both CHD and DS, recent studies and meta-analyses did not consider MTHFR C677T genotype as a maternal risk factor for either of these conditions alone. To investigate if methylenetetrahydrofolate reductase [MTHFR] C677T genotype is a maternal risk factor for the development of congenital heart disease [CHD] only in children with Down syndrome [DS]. Molecular analysis of MTHFR C677T and serum folic acid was done for sixty-one consecutive mothers of children with CHD in the form of septal defects [26 with DS and 35 without DS] and another 61 mothers of apparently healthy children [without DS or CHD]. The frequency of CT genotype was significantly higher in mothers of children with AV canal [whether in DS or non-DS] when compared to ASD and in mothers of DS with AV canal when compared to controls. The frequency of TT genotype was higher in mothers of DS with ASD than controls but statistically insignificant. In non-DS mothers, the distribution of the genotypes did not differ in relation to the type of CHD. The mean folic acid level did not differ between different study groups. MTHFR 677CT genotype could be implicated as a maternal risk factor for septal defects especially in children with DS. Carriers of this genotype may have more risk of development of AV canal in their children. A major limitations of this study was the small sample size and so further studies on a larger sample of patients and their mothers in addition to measurement of homocysteine level in this population is needed to investigate this theory and to clarify the actual role of MTHFR polymorphism and the risk of development of CHD in DS

Zinc status and dietary intake of pregnant women, Alexandria, Egypt

Deficiencies of protein, energy, and micronutrients are highly prevalent in developing countries and have major effects on pregnancy outcome. Low dietary intake is the most common reason for zinc deficiency. The present research is part of a larger double-blind randomized-controlled trial to evaluate the effect of zinc supplementation on the pregnancy outcome. The aim of the present study was to assess the zinc status and dietary intake of zinc and other macronutrients and micronutrients among pregnant women in Alexandria, Egypt. Participants were pregnant women attending two antenatal care centers that serve low-income and middle-income pregnant populations. A total of 1055 healthy pregnant women aged 20-45 years were assessed for eligibility. Of these, only 675 had serum zinc level below the median for the gestational age. They were assigned randomly to one of three parallel groups. Zinc supplements were provided from 16 weeks until delivery. A subsample of 100 women was assessed for their dietary intake. A questionnaire interview was used to collect basic socioeconomic and data on current pregnancy and labor. Dietary data were collected using the 24-h recall method and a food frequency questionnaire. The nutritive value of the daily diet was computed using the Egyptian food composition tables. The blood hemoglobin level, serum zinc level, and fasting blood sugar were determined. Zinc deficiency was detected among 53.5% of the sample. Dietary intake of zinc was low, representing 59.4, 59.4, and 62% of the recommended dietary allowance [RDA] for the zinc group, zinc plus multivitamins, and the placebo group, respectively. The iron intake was below 50% of the RDA. Protein intake was less than 70% of the RDA. The mean intakes of fat were 191.97, 211.8, and 196.3g/day for the three groups. The mean energy intake represented 51.1, 53.5, and 49.8% of the RDA. Except for carbohydrate intake, the dietary intake of all macronutrients and micronutrients was low. The lowest intake was of iron [below 50% of the RDA]. Zinc and protein intake represented less than 70% of the RDA. The overall energy intake was around 50% of the RDA. Nutritional health education should be used as a preventive approach to allow the large sector of the low-income population to maximize the use of the limited resources in the best way. In women at high risk of zinc deficiency, zinc supplementation should be added to the routine supplements

Influence of adipose tissue derived mesenchymal stem cells in combination with injectable bone substitute on osteoclastogenesis in osteoporotic rats.

The present study was designed to evaluate the influence of adipose tissue derived mesenchymal stem cell (ASCs) with or without calcium phosphate composite on osteoclastogenesis in osteoporotic rats. Mesenchymal stem cells (MSCs) were harvested from adipose tissue of both the omentum and the inguinal fat pad of male rats, as the sex mismatch, to track the MSCs fate and to ensure their homing to the injured females' femurs. The isolated ASCs were characterized via the morphological appearance, multilineage potential and the PCR detection of CD29, CD44, CD106, CD14, CD34 and CD45 surface markers. Fifty adult female albino rats were enrolled in the current study. The rats were classified into five groups: group 1 was the gonad intact control, group 2 served as untreated ovariectomized (OVX) rats, group 3 was OVX rats treated with ASCs, group 4 was OVX rats treated with ASCs with injectable bone substitute (IBS) and group 5 was OVX rats treated with IBS. The serum levels of osteoprotegerin (OPG) and receptor activator of NF-қβ ligand (RANKL) were assayed using ELISA procedure. In addition, nuclear factor-κβ (NF-κβ) gene expression level was estimated in femur bones using real time –PCR. The isolated ASCs proved their MSCs identity via their morphological appearance and multilineage potential. In addition, the isolated ASCs showed positive expression for CD29, CD45, CD44 as well as CD106 and negative expression for CD34 and CD14. Besides, the positive expression of the Y-chromosome (sry) gene detected in the ASCs treated groups indicated that the systemically delivered single dose of undifferentiated ASCs was able to home at the females' femur bones. Adipose tissue derived mesenchymal stem cells (ASCs) injection with or without calcium phosphate composite in OVX rats reversed the effect of ovariectomy on the studied biomarkers causing significant increase in serum OPG level accompanied with significant decrease in serum RANKL level. Also, significant down regulation of NF-κβ gene expression in femur bones was detected in the treated groups compared with untreated OVX group. These results clarified the good influence of ASCs against osteoclastogenesis. In addition the combination of ASCs injection with osteoinductive material injectable calcium phosphate composite (IBS), may be useful to achieve the significant antiosteoporotic effects.

Consanguinity and its relevance to clinical genetics

Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely practiced in several global communities with variable rates. The present study was undertaken to analyze the effect of consanguinity on different types of genetic diseases and child morbidity and mortality. Patients were grouped according to the types of genetic errors into four groups: Group I: Chromosomal and microdeletion syndromes. Group II: Single gene disorders. Group III: Multifactorial disorders. Group IV: Diseases of different etiologies. Consanguineous marriage was highly significant in 54.4% of the studied group compared to 35.3% in the control group [P < 0.05]. Consanguineous marriages were represented in 31.4%, 7.1%, 0.8%, 6%, 9.1% among first cousins, one and a half cousins, double first cousins, second cousins and remote relatives respectively in the studied group. Comparison between genetic diseases with different modes of inheritance showed that recessive and multifactorial disorders had the highest values of consanguinity [78.8%, 69.8%, respectively], while chromosomal disorders had the lowest one [29.1%]. Consanguineous marriage was recorded in 51.5% of our cases with autosomal dominant diseases and in 31% of cases with X linked diseases, all cases of mental retardation [100%] and in 92.6% of patients with limb anomalies [P < 0.001]. Stillbirths, child deaths and recurrent abortions were significantly increased among consanguineous parents [80.6%, 80%, 67%] respectively than among non consanguineous parents. In conclusion, consanguineous marriage is significantly higher in many genetic diseases which suggests that couples may have deleterious lethal genes, inherited from common ancestor and when transmitted to their offsprings, they can lead to prenatal, neonatal, child morbidity or mortality. So public health education and genetic counseling are highly recommended in our community

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome

Mitochondrial DNA-associated Leigh syndrome is a part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Mitochondrial T8993C and T8993G mutations account for 10-20% of these cases. T8993C is generally associated with milder phenotype than T8993G mutation. Here we report an Egyptian family with T8993C mutation with unusual early onset of severe phenotype in three sisters [consisting of regression of previously acquired motor and mental milestones after an attack of viral infection] and hypothyroidism as the only presenting symptom in their brother. The mother [like her son] carried the T8993C mutation and was asymptomatic. This unusual lack of manifestation could be attributed to different percentages of mutated mitochondrial DNA in the brain or muscle or perhaps to some unknown protective factor. The hypothyroidism could be a simple association, but to the best of our knowledge, no previous reports have described hypothyroidism in carriers of this mutation

Oral-facial-digital syndrome type II: transitional type between mohr and varadi

We report a 2 months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II [OFDS II] including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyly of hands and feet, duplication of thumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Efficacy of constitutional support to enhance access to essential medicines as a human right to health in the Eastern Mediterranean Region

Access to essential medicines is an element of the international agreements on the human right to health. This review summarizes the current situation concerning access to medicines in the Eastern Mediterranean Region [EMR] by examining the policies, constitutional provisions and other legal instruments of the Member States. The constitutions of 18 out of 22 EMR countries enshrine health as a human right [8 countries have a duty statement, 5 have a programmatic statement and 5 specify entitlement]; only 4 EMR countries do not enshrine health as a human right in a clause in their constitution. More than half the countries [i.e. 12] have an official national medicines policy, 4 have a draft policy and 6 have no national medicines policy. A total of 11 countries operate an essential medicines list. Realization of this right to health necessitates that duty bearers take all necessary legislative measures to respect, protect and fulfil this right

Preliminary report on the Neurology workload ina central hospital in Sudan

Identification of the local pattern of neurological diseases is expected to help setting the priorities for good planning of management and public education. To identify the pattern of neurological disorders in a second biggest central hospital in Sudan. Review of the diagnosis of 170 patients, seen in the out patients neuro-clinic and the neurology ward from March 2010 to February 2011, was done. Patients who were in follow up by other neuro-clinics were excluded. The male to female ratio was 1:1 Patients who were 20-60 years old comprised 54%.About 50% of patients live in Omdurman city. Motor symptoms were the most common presenting symptoms forming 64.1% followed by cranial nerves symptoms 27.6%. Stroke was the commonest encountered diagnosis seen in 20.7%, followed by epilepsy in 16.6%, headache in 9.6%, movement disorders in 7.7%, peripheral neuropathy in 3.6%, demylination in 1.8%, cerebral venous sinus thrombosis [CVST] 1.8% and tumours in 1.2% patients. Stroke was more common in patients from East Sudan and Epilepsy was more common in patients from West Sudan. Vascular and degenerative changes were the commonest abnormalities seen in imaging studies. Demyelination and neoplasms were more common in females. Stroke, epilepsy and headache were the commonest neurological disorders met in Omdurman Teaching Hospital

[Depolymerization and characterization of chitosan]

The depolymerization of chitosan could be carried out by acid hydrolysis using 2 M hydrochloric acid solution. The desired molecular weight could be obtained by changing the reaction time. IR spectrum spectroscopy demonstrated that there was no structure change during depolymerization. X-ray diffraction results indicate that the crystallinity of LMWCs is decreased compared to HMWC. The decomposition temperature of chitosan was molecular weight dependent. There is slight increase in the degree of deacetylation of depolymerized LMWC compared to the native high molecular weight chitosan. The solubility of chitosan increased with decreasing molecular weight. Chitosan has a positive zeta potential and its value affected by the pH, molecular weight, DDA, and concentration

Outcome of enzyme replacement therapy in children with Gaucher disease: the Egyptian experience

Gaucher disease is the most prevalent lysosomal storage diseases which results from inherited deficiency in the glucocerebrosidase enzyme. Three main clinical forms have been described: type I non-neuropathic, type II acute neuropathic and type III subacute neuropathic. Although it is panethnic disease, its presentation has some ethnic specific characteristics. In this work, we present specific characteristics as well as our experience in diagnosing and managing a group of Egyptian patients with this disease. The study included 48 patients with Gaucher disease attending Children's Hospital, Ain Shams University. The recombinant enzyme imiglucerase [cerezyme] was given in a dose of 60 U/kg/2 weeks. Haemoglobin, platelet count, plasma chitotriosidase, and abdominal ultrasound were assessed before starting therapy and every 6 months. Molecular analysis was done to 23 patients. At presentation, the mean age was 3.54 +/- 3.8 years. Ten patients [20.8%] had type I, 6 had type II [12.5%] and 26 had type III Gaucher disease [66.7%]. The commonest genotype was homozygous L444P which was present in 13 patients [56.5%] followed by homozygous N370S; found in three patients [13.04%]. Follow up after enzyme replacement therapy revealed a significant increase in weight and height, haemoglobin level and platelet count and slow reduction in the liver span and spleen length. Bone manifestations showed slow but complete improvement while neurological and respiratory manifestations were partially ameliorated with individual variations. To conclude, since most of Egyptian children with GD have type III disease and L444P/L444P genotype, a minimum dose of 60 U/kg/2 weeks should be maintained until adulthood. Higher doses started at an early age may delay the progression of neurological symptoms. Pulmonary involvement is not rare in Egyptian patients and may respond to dose increase or dose fractionation. Cardiovascular and renal involvement should be further studied in our population

Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

Mental retardation is present in about 1-3% of individuals in the general population, but it can be explained in about half of the cases. A descriptive study was carried out to screen for subtle chromosomal rearrangements in a group of Egyptian children with idiopathic mental retardation [IMR] to estimate its frequency if detected. The study enrolled 30 patients with IMR, with the perquisite criteria of being <18 years at referral, their IQ <70, and manifesting at least one of the criteria for selection of patients with subtelomeric abnormalities. Males were 63.3% and females were 36.7%, with a mean age of 7.08 +/- 4.22 years. Full history taking, thorough clinical examination, IQ, visual, and audiological assessment, brain CT scan, plasma aminogram, pelvi-abdominal ultrasonography, echocardiography, and cytogenetic evaluation using routine conventional karyotyping, high resolution banding [HRB], and fluorescent in situ hybridization [FISH] technique with appropriate probes were carried out for all studied patients. All enrolled patients had apparently normal karyotypes within 450 bands resolution, except for one patient who had 46, XY, [del [18] [p11.2]]. HRB and FISH showed subtle chromosomal rearrangement in 10% of cases that have been proven to be subtelomeric in 2 cases, i.e., 6.8%: 46, XY, dup [17] [p13.3], 46, XY, del [2] [q36.1-36.3], and non-subtelomeric in one case, 5.5%, 46, XX, ins [7;?] [q22;?]. To conclude, in children with IMR and clinical phenotype indicative of a suspected chromosomal anomaly, once recognizable syndromes have been excluded, abnormalities that include the ends of chromosomes must be searched for using HRB and subtelomeric FISH even when conventional karyotyping fails to demonstrate any abnormality

Connexin 26 [GJB2] mutation in KID syndrome: an Egyptian patient

Keratitis +/- ichthyosis +/- deafness [KID] syndrome is a rare disorder characterized by the occurrence of localized erythematous scaly skin lesions, severe bilateral keratitis, and sensorineural deafness. Other ocular manifestations include corneal epithelial defects and scarring, which cause progressive decline of visual acuity and may eventually lead to blindness. To our knowledge, few cases have been reported worldwide and none were reported from the Middle East Arab countries. Here we report the first Egyptian patient with this syndrome

Colchicine resistant FMF is not always true resistance

Crohn's disease and familial Mediterranean fever are both inflammatory diseases characterized by similar clinical manifestations. The concurrence of the two diseases may pose a challenge to diagnosis and treatment. In this report, we present a child with familial Mediterranean fever and undiagnosed Crohn's disease which made him apparently resistant to colchicine therapy. Symptoms of Crohn's disease were masked by the resistant fever of FMF. Amelioration of symptoms of both diseases was achieved when treatment of both diseases were gradually introduced. Searching of IBD in children with colchicines resistant FMF is mandatory, as both diseases have similar symptoms and responsible genes may modify one another

Consanguineous matings among Egyptian population

Consanguinity is the blood relationship that exists among individuals that descend from a common ancestor. The objectives of the study was to explore the frequency and socio-economic determinants of consanguinity in Egypt. The study was carried out using a cross-sectional approach which included 10,000 unselected couples. All couples were recruited from the prenatal, gynecologic, neonatal and pediatric clinics as well as vaccination centers in three hospitals one in Lower Egypt [Cairo] and two in Upper Egypt [Sohag and Assuit]. Consanguineous marriage is still high in Egypt [35.3%], especially among first cousins [86%]. However the frequency varies by region. It is higher in Sohag [42.2%] and Cairo [36.1%] than in Assuit [21.7%]. Also it was higher in rural areas [59.9%] than in semi-urban and urban areas [23.5% and 17.7%, respectively]. It was associated with decreased age of marriage, low educational level and unemployment in the couples which means that the socio-economic determinants are still working in maintaining this high rate of consanguinity. This is in addition to the high divorce rate and increased number of unmarried females in Egypt. Advances in genetics have led to a deeper understanding of the effect of inbreeding on the occurrence of genetic diseases. As prolonged parental inbreeding has led to a background of homozygosity above that predicted by simple models of consanguinity, we encourage counselors to call on a reliable computer program for calculation of the recurrence risks in these families