Metagenomics of Imported Multidrug-Resistant Mycobacterium leprae, Saudi Arabia, 2017.

Using shotgun metagenomics, we identified an imported case of multidrug-resistant Mycobacterium leprae in a Filipino resident of Saudi Arabia in 2017. We determined the phylogenomic lineage (3K1) and identified mutations in rpoB and rrs corresponding to the multidrug-resistance phenotype clinically observed. Metagenomics sequencing can be used to identify multidrug-resistant M. leprae.

Validity of maximal oxygen consumption prediction equations in young Saudi females.

OBJECTIVES: To determine the applicability of Jones, Hansen, and Wasserman predictive equations for maximal oxygen consumption (VO2max) in Saudi females.  Methods: This cross-sectional study was conducted at Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia, between March and May 2017. Maximal oxygen consumption was measured directly through the COSMED system for cardiopulmonary exercise testing in 102 girls with normal body mass index (19-25 years old). Maximal oxygen consumption was indirectly predicted by Jones, Hansen, and Wasserman equations. Paired t-test, Pearson correlation, and Bland-Altman plot were used for comparison, correlation, and agreement analysis. Results: The difference between the mean and standard deviation (±SD) VO2max values of the direct measurement (27.39±4.06 ml/kg-1/min-1), and the Jones (35.19±2.12 ml/kg-1/min-1), Hansen (33.64±0.24 ml/kg-1/min-1), and Wasserman (35.20±0.17 ml/kg-1/min-1) equations, was statistically significant (p less than 0.001). Bland-Altman plot analysis suggested a lack of agreement between direct and predicted VO2max. Pearson correlation failed to reveal any correlation between direct VO2max and VO2max calculated with any of the 3 equations. Conclusion: Jones, Hansen, and Wasserman equations for prediction of VO2max cannot be justified in the studied population. For the better prediction of VO2max, either these equations should be modified, or a new equation should be developed for the Saudi population.

Dermatoses due to Arabic cultural and traditional practices.

A number of social and cultural practices are prevalent in the Middle-East celebrating various occasions or to treat health conditions. These often result in dermatoses that are unfamiliar and confusing to dermatologists outside this region. This paper reviews skin manifestations emanating from traditional and ritual practices in Arab countries, particularly those from Saudi Arabia.

Crusted nipple and areola: A new aetiology of secondary hyperkeratosis of the nipple and areola.

Hyperkeratosis of the nipple and areola is a rare condition first described by Tauber in 1923. Less than 100 cases have been reported in the literature. Hyperkeratosis of the nipple and areola presents as hyperkeratotic, hyperpigmented plaques on the nipple and areola. It is more common in females. An 18-year-old female patient presented with hyperkeratotic, plaque-like, hard crusts on both nipples and areolas. The examining physician could successfully remove this crust using his finger. The crust had accumulated as a result of the patient's reluctance to touch or clean the breast area due to psychological issues. A crusted nipple and areola may occur as a secondary condition due to a patient's reluctance to touch or clean their breasts.

Application of MALDI-TOF MS fingerprinting as a quick tool for identification and clustering of foodborne pathogens isolated from food products.

Foodborne pathogens can be associated with a wide variety of food products and it is very important to identify them to supply safe food and prevent foodborne infections. Since traditional techniques are timeconsuming and laborious, this study was designed for rapid identification and clustering of foodborne pathogens isolated from various restaurants in Al-Qassim region, Kingdom of Saudi Arabia (KSA) using matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). Sixty-nine bacterial and thirty-two fungal isolates isolated from 80 food samples were used in this study. Preliminary identification was carried out through culture and BD Phoenix™ methods. A confirmatory identification technique was then performed using MALDI-TOF MS. The BD Phoenix results revealed that 97% (67/69 isolates) of bacteria were correctly identified as 75% Enterobacter cloacae, 95.45% Campylobacter jejuni and 100% for Escherichia coli, Salmonella enterica, Staphylococcus aureus, Acinetobacter baumannii, and Klebsiella pneumoniae. While 94.44% (29/32 isolates) of fungi were correctly identified as 77.77% Alternaria alternate, 88.88% Aspergillus niger and 100% for Aspergillus flavus, Penicillium digitatum, Candida albicans and Debaryomyces hansenii. However, all bacterial and fungal isolates were 100% properly identified by MALDI-TOF MS fingerprinting with a score value ≥2.00. A gel view illustrated that the spectral peaks for the identified isolates fluctuate between 3,000 and 10,000 Da. The results of main spectra library (MSP) dendrogram showed that the bacterial and fungal isolates matched with 19 and 9 reference strains stored in the Bruker taxonomy, respectively. Our results indicated that MALDI-TOF MS is a promising technique for fast and accurate identification of foodborne pathogens.

The demographic and clinical characteristics of leprosy in Saudi Arabia.

Leprosy is a chronic disease caused by Mycobacterium leprae. Although the occurrence of leprosy has declined in Saudi Arabia, it has not yet been eradicated. To our knowledge, this descriptive retrospective study is the first to assess the clinical presentation of leprosy at the time of diagnosis in Saudi Arabia. All study subjects were leprosy patients admitted to Ibn Sina hospital, the only referral hospital for leprosy in Saudi Arabia, between January 2000 and May 2012. A total of 164 subjects, the majority of whom (65%) were between 21 and 50 years of age, were included, and the male-to-female ratio was 2.8:1. Of these 164 patients, 63% were Saudis, and 77% of all admitted patients were from the western region. Lepromatous leprosy was observed most frequently (33%), and 31% of cases had a positive history of close contact with leprosy. At the time of diagnosis, 84% of all subjects presented with skin manifestation. The prevalence of neurological deficit at the time of diagnosis was 87%. Erythema nodosum leprosum (E.N.L.) developed in only 10% of all subjects. Further studies are needed to determine the clinical characteristics pertaining to each type of leprosy in the region, and training courses in caring for and diagnosing patients with leprosy should be organized for health workers.

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

OBJECTIVE: The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of some controversy, with evidence for both autoimmune and autoinflammatory etiologies. Several monogenic autoinflammatory disorders have been described, but thus far, systemic JIA has only been attributed to a mutation of MEFV in rare cases and has been weakly associated with the HLA class II locus. This study was undertaken to identify the cause of an autosomal-recessive form of systemic JIA. METHODS: We studied 13 patients with systemic JIA from 5 consanguineous families, all from the southern region of Saudi Arabia. We used linkage analysis, homozygosity mapping, and whole-exome sequencing to identify the disease-associated gene and mutation. RESULTS: Linkage analysis localized systemic JIA to a region on chromosome 13 with a maximum logarithm of odds score of 11.33, representing the strongest linkage identified to date for this disorder. Homozygosity mapping reduced the critical interval to a 1.02-Mb region defined proximally by rs9533338 and distally by rs9595049. Whole-exome sequencing identified a homoallelic missense mutation in LACC1, which encodes the enzyme laccase (multicopper oxidoreductase) domain-containing 1. The mutation was confirmed by Sanger sequencing and segregated with disease in all 5 families based on an autosomal-recessive pattern of inheritance and complete penetrance. CONCLUSION: Our findings provide strong genetic evidence of an association of a mutation in LACC1 with systemic JIA in the families studied. Association of LACC1 with Crohn's disease and leprosy has been reported and justifies investigation of its role in autoinflammatory disorders.

Eradicating leprosy in Saudi Arabia: outcome of a ten-year surveillance (2003­2012).

BACKGROUND: The Kingdom of Saudi Arabia (KSA) has a sentinel surveillance system on leprosy for effective monitoring of the disease. METHODS: A retrospective epidemiological analysis of all cases of leprosy captured by the surveillance system between 2003 and 2012 was conducted. RESULTS: Over the 10-year period, there were 242 reported cases of leprosy in KSA, 67% of which were in those aged between 15 and 44 years of age. Males accounted for over 77% of all cases and non-Saudi nationals, dominated by Indians, and represented 57.4% of the total cases. Just over half of the cases were paucibacillary leprosy, and 9% were grade 2 disability. Makkah region accounted for nearly 42% of all cases. Annual trends showed an overall decline in the yearly cases and prevalence of the disease from 41 cases (0.018 per 10,000 population) in 2003 to 15 cases (0.005 per 10,000 population) in 2012. CONCLUSION: KSA needs to strengthen the leprosy surveillance systems, as well as health care and community education about the disease which will help effective monitoring, early detection and treatment of the disease. Moreover, the role or migrants in the importation of the disease needs to be addressed to achieve and maintain eradication.

Diagnostic dilemma of primary mucosal leishmaniasis.

Leishmaniasis is caused by Leishmania protozoa. It is widely present in more than 88 countries worldwide, resulting in up to 80,000 deaths annually. Leishmaniasis occurs as visceral, cutaneous, or mucocutaneous variants. Mucosal involvement can occur secondarily to the cutaneous or visceral varieties. However, primary mucosal leishmaniasis (PML) occurs without any present or past cutaneous and or visceral disease. It is extremely rare, and its diagnosis may present a serious challenge. It may be difficult to differentiate it from granulomatous conditions like tuberculosis, sarcoidosis, leprosy, fungal infections, Wegener's granuloma, and neoplasms. Here, we present a case of PML in Saudi Arabia.

Pigmentary demarcation lines on the face in Saudi women.

BACKGROUND: Pigmentary demarcation lines (PDL) are physiological abrupt transition lines between hyperpigmented skin and lighter areas. Recent evidence suggests that they involve the face. AIMS: To survey facial PDL in Saudi females referred to general dermatology clinics for various complaints and determine any associated risks. METHODS: Screening for facial lines was done in general dermatology clinics over a year. Whenever a patient was found to have facial PDL, a detailed questionnaire and examination were undertaken. RESULTS: Out of 1033 patients screened, 144 patients (14%) were found to have at least one of the facial PDLs. The median age of onset was 16 years. The most common line was F with 76 patients (53%). Family history was positive in 51 patients (35%). CONCLUSION: Facial PDL is a common and chronic pigmentary problem in Saudi women. It should be recognized and differentiated from other similar diseases like melasma. A significant proportion of patients have a milder presentation.

Acne neonatorum in the eastern Saudi Arabia.

BACKGROUND: Acne neonatorum (AN) is characterized by a facial eruption of inflammatory and noninflammatory acne lesions in a neonate. Hyperactivity of sebaceous glands, stimulated by neonatal androgens, is implicated in its pathogenesis. AIM: To elucidate the clinical profile of AN in eastern Saudi Arabia. METHODS: All patients diagnosed with AN in King Fahd Hospital of the University in Khobar, Saudi Arabia, during the year 2005 were evaluated clinically. RESULTS: AN was diagnosed in 26 patients (male/female ratio 1:1). The lesions included mainly facial comedones (30.8%); papules and pustules (15.3% each); and combination of papules, pustules, and cysts (53.4%). CONCLUSION: All patients recovered spontaneously. In 50% of the cases, one of the parents reported having had acne vulgaris during adolescence. Hereditary factors seem to play a significant role in our series.

Rhinoscleroma: a clinicopathological study from the Gulf region.

INTRODUCTION: Rhinoscleroma is a chronic progressive inflammatory disease of the upper respiratory tract. We report a clinicopathological series from the Gulf region. METHODS: The clinical and pathological features of patients diagnosed with rhinoscleroma at three main hospitals in Saudi Arabia and Bahrain over a 20-year period are presented. Archived glass slides and paraffin blocks from these patients were retrieved from the pathology files for review. Special stains were performed whenever indicated. Biopsy material and clinical data from 25 patients formed the basis of this study. RESULTS: Most of the patients were young females with a median age of 24 years. The nose was involved in all cases with frequent extension to other parts of the upper respiratory tract. The provisional clinical diagnoses included syphilis, midline granuloma and malignancy. The histological differential diagnoses included leprosy, malakoplakia and metastatic renal cell carcinoma. CONCLUSION: Rhinoscleroma is rare in Saudi Arabia and Bahrain. Awareness of possible clinical presentations and early diagnosis will significantly reduce the morbidity caused by this disease.

Skin and treponemal diseases among Asian domestic house-helpers in northern Saudi Arabia.

BACKGROUND: Asian domestic house-helpers in Saudi Arabia come from a different socioeconomic setting with a different disease pattern from that of their host country. This study reports the incidence of skin and treponemal diseases in this group seen at a referral hospital in northern Saudi Arabia. METHODS: The study was based on the analysis of the dermatologic and serologic examinations of 1520 domestic house-helpers during resident permit issue, and a retrospective study of clinical records of house-helpers with skin disorders. RESULTS: Routine examination revealed significant skin disease in 374 (24.6%) individuals, and the disease was transmissible in 126 (8.3%). Treponemal infection (5, 0.3%) and leprosy (1, 0.07%) were seen. Hand dermatitis and chicken pox were the most common causes of hospital attendance. Psychologic skin disorders included three cases of neurotic excoriations, two cases of delusion of parasitosis, and a case of dermatitis artefacta. CONCLUSIONS: The prevalence of transmissible skin diseases in Asian domestic house-helpers is low compared with that in their home countries. Excluding individuals with stigmata of atopic dermatitis from employment as house-helpers, adequate counselling will reduce the incidence of hand dermatitis and psychologic skin disorders. There is a need for continuous surveillance to prevent the introduction of skin diseases not normally seen in the native population.

Lepromatous leprosy in Saudi female from central region.

Leprosy is an uncommon disease in Saudi population. Lepromatous leprosy is a most contagious form of leprosy. Erythema nodosum leprosum is an unusual complication of leprosy. We report an unusual case of leprosy from the central region of Saudi Arabia presenting as erythema nodosum leprosum.

Leprosy in Saudi Arabia, 1986-89.

This study on leprosy includes information obtained from the Ibn Sina Hospital, a specialized centre established 27 years ago for treatment and management of the disease in Saudi Arabia. A total of 792 patients with leprosy were reported during the period of the study (1986-89). A steady decline was observed in the number of patients reported: 432 (54.55%) were non-Saudi and 360 (45.45%) were Saudi. Patients were reported from a total of 22 different countries. The majority of the non-Saudi patients were from the Yemen, 286 (36.11%). The male-to-female ratio was 3.83:1. The age groups comprised: 133 (16.79%), 51 to 80; 575 (72.60%), 21 to 50; and 84 (10.61%), under 20 years of age. The disease was classified into five categories (Ridley and Jopling classification): 295 (37.25%), lepromatous type; 238 (30.05%), tuberculoid type; 146 (18.43%), borderline-tuberculoid type; 29 (3.66%), borderline type; and 84 (10.61%), borderline-lepromatous type. Although the number of registered patients is decreasing, this trend does not suggest an overall decline in the disease in the country. It is recommended, therefore, that the services being provided to patients with leprosy must be integrated with the nationwide network of the Primary Health Care Centres to implement effective control and prevention, including health education for the general population. Furthermore, mutual agreements must be developed with adjacent countries to study the geographic distribution of the disease.

Hansen's disease: a cause of lymphadenopathy in endemic areas.

In this paper we report two unusual cases of leprosy, both presenting with lymphadenopathy as the initial manifestation of the disease. Lymphadenopathy was the dominant presenting complaint of the first patient in whom skin lesions were absent. A diagnosis of lepromatous leprosy was made only after a lymph node biopsy. Following this diagnosis neural involvement was evident. In the second patient the lymphadenopathy was associated with polyarthritis leading to a false clinical diagnosis of Still's disease. This unusual presentation in both cases led to a delay in the final diagnosis which was based on histopathological examination of lymph nodes. The clinical and histopathological features of both patients are discussed. Superficial nerves should be palpated in all patients presenting with lymphadenopathy in endemic areas.