PHENYLKETONURIA: A SUMMARY OF EXISTING AND PROSPECTIVE TREATMENTS
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterised by the inability to break down the amino acid phenylalanine (Phe), resulting in toxically elevated levels of Phe in the body that may cause serious mental and physical disability. There are two main types of PKU, typical where Phenylalanine Hydroxylase (PAH) is defective and atypical where a defect is found in the biosynthesis or recycling of tetrahydrobiopterin (BH₄), a cofactor for PAH. In 1954 it was established that the key to treating PKU was a diet low in Phe starting from birth. Since then dietary restriction and medical substitutes for foods have been the most accessible treatment options. However compliance with this treatment is suboptimal, resulting in impairments and lower quality of life. In the last couple of years new therapies have been developed which include supplementation with compounds preventing Phe entry into the brain or allowing its breakdown: (enzyme Phe-ammonia lyase), saproprotein, large neutral chain amino acid supplementation, genetically modified probiotics for the delivery of PAH, glycomacropeptide foods and gene therapy. The purpose of this review is to examine prospective PKU treatments and their necessity in improving the quality of life of affected individuals.
Hurler syndrome is a lysosomal storage disorder also known as mucopolysaccharidosis type I. There are two other, less severe types of mucopolysaccharidosis type I, the Hurler - Scheie syndrome and the Scheie syndrome. Hurler syndrome is a rare autosomal recessive disorder with a prevalence of 1 in 200,000 and a life expectancy of less than 10 years. It is caused by a defective gene for the enzyme α-L iduronidase. The resulting enzyme deficiency leads to the progressive accumulation of glycosaminoglycans namely, dermatan sulphate and heparan sulfate in multiple tissues in the body, causing abnormally thick mucus secretion in the respiratory and digestive tracts as well as abnormal enlargement, thickening, and malfunction of many tissues and organs. The symptoms include intellectual disability, characteristic musculoskeletal manifestations as well as cardiac disease and neurological impairments. Some of the symptoms appear during the first twelve months after birth and vary from patient to patient. However, the lack of a reliable prognostic biomarker makes it more difficult to make a treatment decision for newborns diagnosed through screening, making the timing of diagnosis and treatment initiation very important. Treatments found to improve life expectancy include Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation. Several surgical procedures can also be performed to mitigate some of the symptoms of the syndrome. Today, gene therapy is considered a very promising method while transplantations of the bone marrow and the umbilicus are close to becoming crucial for Hurler’s syndrome treatment.
STUDY OF SKULL FRACTURES AND THEIR COMPLICATION IN QASSIM REGION USING COMPUTED TOMOGRAPHY
Background: Head injury is the frequent cause of morbidity and mortality and frequently encountered in emergency department. Radiological examination of the skull is an indispensable part in the management of patients suffering from head trauma.with computerized tomography (CT) scan as the gold standard in the diagnosis of patients with cranial and facial fractures.
The purpose of this study is to show types of skull fractures and their complication in Qassim region, using x-ray and CT scan.
Materials and Methods: A total of 80 patients with head injury were analyzed Using CT, 58 (72%) were males and 22 (28%) females. The age of the patients ranged from 1-95 (mean ±31years) in Buraydah central hospital and King Saud hospital, who are complaining from skull fractures and they have clinical evidence. were performed between 12 january2017- and 15 august 2017------, Data recorded included cause of injury, age and gender distribution,
Results: Most common site of skull fracture was parietal 32.5% (left parietal bone 19%, right parietal bone 13.5%), followed by Frontal in 16.2%, same in the temporal region 16.2% ( right temporal bone 13.5%, left temporal bone 2.7% ), , were in occipital region (8.1%) , the mandible bone (5.4%) , orbital 5.4% ( right orbital 2.7%, left orbital 2.7%) , and the others bones supraorbital, maxillary, and multifacial is 2.7%, and 8.1% normal cases, they cases seen by both modalities.
And our study show the most effected age group 21-40 (46%), the 2nd most effected 1-20 ( 34% ), the 3rd one are 61-80 (10%),the 4th most effected are 41-60 ( 7% ), and the last most effected are 81-100 ( 3% ). The patients who have done x-ray only 25 patients 31.25% , the patients who have done CT scan only 11 patients 13.75%, The patients who have done both modalities 44 patients 55%.
Conclusion: The study of skull fractures is important as the skull protect the brain, even it’s the most exposed part of the body to injury , for that we choice for our graduation project to make this study in Qassim region which have a significance feedback to healthcare.
TETANUS - CASE REPORT, REVİEW OF LİTERATURE AND RECENT ADVANCES İN MANAGEMENT
Marcellinus Okafor Nkpozi
Tetanus remains a common infection in the poor, developing countries of the world where its mortality is still high. Intensive care unit (ICU) facilities, not readily available in those countries, are required in severe tetanus for a favourable outcome. The objective of this report is to draw attention to an uncommon source of tetanus very unlikely to be covered by the existing maternal-child vaccination programme. A case of tetanus in a young woman who had induced abortion was seen and managed in Abia State University Teaching Hospital, (ABSUTH), Aba. The patient died less than 48 hours of hospitalization, prompting this review of recent advances in management of tetanus. In conclusion, because of some uncommon and trivial sources of tetanus, expensive and scarce medications for neutralizing tetanus toxins, availability of cheap and effective vaccine, high mortality associated with severe tetanus and the dire need for ICU facilities in severe cases, one is constrained to advocate for universal tetanus immunization with booster doses as the need arises. Keywords: tetanus, recent advances in management of tetanus, universal tetanus immunizations, high mortality.