Abandoned housing projects in Malaysia: Pressing issues during the rehabiliation process

Abandoned of housing projects during construction is a prevailing problem that the housing sector in Malaysia has been experiencing since 1980s. This paper aims to highlight the causes and impacts of abandoned housing projects, and various initiatives to rehabilitate these projects. Factors pertaining to projects abandonment can be categorized into: economic, financial, legal, managerial, system-related, and unforeseen risks. The study reveals three main impacts of abandoned housing projects: social, economic, and environmental impacts. The main steps taken to solve this problem include the rehabilitation of abandoned projects and other initiatives to reserve the right of purchasers through appropriate legal resolutions endorsement. Additional initiatives and formulation of upgraded solutions would further strengthen and enhance the ongoing policy of preempting and resuscitating abandoned housing projects. The study suggests further research to be conducted to identify various risks involved in the rehabilitation process. Such research can be aided through the seeking of stakeholders’ opinions on the risks to carry out projects rehabilitation

Abandoned Housing Projects In Malaysia: Risk Management Capabilities During Rehabilitation

Rehabilitation is a key-initiative undertaken to overcome a prevailing problem in Malaysia that is the abandonment of housing projects during construction. However, rehabilitation is a complex process and involves various parties. The purpose of this paper is to identify critical risks during the rehabilitation process and to evaluate capabilities of main stakeholders in managing these risks. To achieve this objective, a questionnaire survey was used and targeted three groups, namely authorities, builders, and liquidators. The data were analyzed using Relative Importance Index (RII) and Chi-square to determine top ranking risks and risk categories. The results showed 18 risk variables and indicated Managerial Risk as the top risk category. The results also showed feeble risk management capabilities of the three groups. The findings of this paper attempt to fill a significant gap in the literature pertaining to this subject. The identification of the risks and capabilities pitfalls is expected to provide invaluable information to facilitate the rehabilitation process to complete the abandoned projects successfully

Literature mapping: A bird's eye view on classification of factors influencing project success

The subject of project success has caught the attention of researchers for the last five decades. The long list of project success factors indicates that there are no common denominators for project success. It also indicates that there was no agreement on the definition of success. The aim of this review paper is to classify relevant literature on project success in order to obtain a greater breadth on this topic. This paper distinguishes the success of project into project success definition, measurement or dimension of project success, traditional success factors, non-traditional success factors, frameworks and models of project success, type of industry, location (country) of research, specific level (individual, group, organisation, and project), and phases of project (project life cycle). This paper further highlights the classification of the success factors of project in construction industry and other industries. The outcome of this paper is a literature review mapping, which provides a holistic picture of this notion to clearly specify the gap in literature

ABANDONED HOUSING PROJECTS IN MALAYSIA: Pressing Issues during the Rehabilitation Process

Abandoned of housing projects during construction is a prevailing problem that the housing sector in Malaysia has been experiencing since 1980s. This paper aims to highlight the causes and impacts of abandoned housing projects, and various initiatives to rehabilitate these projects. Factors pertaining to projects abandonment can be categorized into: economic, financial, legal, managerial, system-related, and unforeseen risks. The study reveals three main impacts of abandoned housing projects: social, economic, and environmental impacts. The main steps taken to solve this problem include the rehabilitation of abandoned projects and other initiatives to reserve the right of purchasers through appropriate legal resolutions endorsement. Additional initiatives and formulation of upgraded solutions would further strengthen and enhance the ongoing policy of preempting and resuscitating abandoned housing projects. The study suggests further research to be conducted to identify various risks involved in the rehabilitation process. Such research can be aided through the seeking of stakeholders’ opinions on the risks to carry out projects rehabilitation

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia

Background: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies. CYP11A1 gene encodes the mitochondrial cholesterol side-chain cleavage enzyme (P450scc), which initiates the first reaction in steroidogenesis by converting cholesterol to pregnenolone. Variants in this gene are extremely rare but associated with severe forms of CAH due to its early and critical function in various steroid biosynthesis pathways. Here, we report a CYP11A1 exonic homozygous variant that, although exonic in location, affects splicing by creating an additional aberrant splicing site with frameshift and truncation of the gene. Patients and methods: The proband is a 23-year old 46,XY patient raised as a girl. She was a product of normal pregnancy for first-degree relative parents. Soon after birth, she had vomiting, dehydration, hypotension, hyponatremia and hyperkalemia. She was started on glucocorticoids and mineralocorticoids with prompt recovery. Apart from a chronic need for these medications, her neonatal and childhood history was unremarkable. She sought medical advice at age 19 years for delayed puberty with primary amenorrhea and lack of breast development. On evaluation, she had normal external female genitalia, no breast development, undescended testes and absent uterus and ovaries. Her hormonal evaluation revealed very low estrogen, testosterone, cortisol, aldosterone, 17-hydroxyprogesterone, and androstenedione levels. ACTH, LH, FSH and renin were very high consistent with primary gonadal and adrenal failure. Her parents are healthy first-degree cousins. She has three sisters, all with 46,XX karyotype. One of them is clinically and biochemically normal while the other two sisters have normal female phenotype, normal uterus and ovaries, similar hormonal profile to the proband but different karyotype (46,XX) and absence of undescended testes. gDNA was used for whole exome sequencing (WES). Sanger sequencing was performed to confirm the detected variant and its segregation with the disease. Results: WES identified a homozygous missense variant in CYP11A1 changing the second nucleotide (GCG > GTG) at position 189 in exon 3 and resulting in a change of Alanine to Valine (p.Ala189Val). This variant was confirmed by PCR and Sanger sequencing. It was found in a homozygous form in the proband and her two affected sisters and in a heterozygous form in the unaffected sister. In-silico analysis predicted this variant to create a new splicing site with frameshift and truncation of the gene transcript. This was confirmed by isolation of RNA, cDNA synthesis, gel electrophoresis and sequencing. Conclusion: We describe a family with a very rare form of CAH due to a CYP11A1 variant leading to creation of a new splice site, frameshift and premature truncation of the protein

Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient

Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p.(W577C) and frameshift p.(G676Afs33) variants at exons 12 and 14 of the LDLR gene respectively. DNA sequencing of LDLR gene from the parents demonstrated that the missense variant was inherited from the mother and frameshift variant was inherited from the father. The frameshift variant resulted in a stop signal 33 codons downstream of the deletion, which most likely led to a truncated protein that lacks important functional domains, including the trans-membrane domain and the cytoplasmic tail domain. The missense variant is also predicted to be likely pathogenic and affect EGF-precursor homology domain of the LDLR protein. The segregation pattern of the variants was consistent with the lipid profile, suggesting a more severe FH phenotype when the variants are in the compound heterozygous state. The finding of a compound heterozygous mutation causing severe FH phenotype is important for the genotype-phenotype correlation and also enlarges the spectrum of FH-causative LDLR variants in the Arab population, including the Saudi population

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population

ABSTRACT Background The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life‐threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes. Here, we report families with PAI in a consanguineous population of Saudi Arabia. Materials and Methods A cohort of 47 PAI patients (41 males and six females) representing 30 families was recruited. The cohort excluded congenital adrenal hyperplasia (CAH) cases and had a known consanguinity of 70%. Using ES, molecular genetic causes of PAI were investigated. Results In 30 unrelated families with PAI, pathogenic/likely pathogenic variants were detected in 27 families with a diagnostic yield of (90%). Clinically associated variants of uncertain significance (VUS) were identified in a further two PAI families (7%). Hemizygous variants in ABCD1 were the most common cause of PAI in this cohort (16 families) leading to adrenoleukodystrophy. A total of six novel variants were detected, of which four were predicted to be pathogenic (P) / likely pathogenic (LP) and two were VUS. Four pathogenic variants in ABCD1, NR0B1, and MC2R were detected in 10 families suggesting founder mutations. Conclusion In this cohort, ES detected a diagnostic molecular abnormality in 90% of patients with PAI phenotypes. X‐linked inheritance is the most common cause of PAI and founder mutations likely contributed to a high diagnostic yield

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital &amp; Research Centre, Riyadh, Saudi Arabia, to review cases with 25-hydroxylase deficiency and describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from nine different families who presented with low 25-OH vitamin D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G&gt;A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations. Thirteen out of 18 homozygous patients and all the heterozygous patients responded to high doses of vitamin D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. Five out of 18 homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G&gt;A mutation required calcitriol treatment. To date, this is the largest cohort series analyzing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.</jats:p