Introduction

Inborn errors of metabolism (IEM) make up a large group of disorders caused by an inherited defect of proteins that have enzymatic, carrier, receptor or structural roles. The cumulative prevalence of IEM in different populations is around 1:500 – 800 newborns, despite the fact that some of these disorders are extremely rare when taken individually. Early recognition and intervention are essential to avoiding disastrous consequences associated with IEM. The phenotype of IEM patients is very heterogeneous and only in combination with specialized metabolic test it can lead to a correct diagnosis. The aim of the study was defined as evaluation of importance of plasma amino acid profile in the diagnosis of IEM. 

Material and methods

Plasma amino acids quantification have been performed by high performance liquid chromatography on Shimadzu LC-20 with post column derivatization with OPA in 15 patients aged from 0 to 13 years old, selected through medical genetic counseling, based on inclusion and exclusion criteria. Inform consent has been signed by parents after receiving all necessary information regarding the study. Additionally, liquid chromatography-tandem mass spectrometry (LC-MS/MS) on dried blood spots and Nuclear Magnetic Resonance Spectroscopy (H1-NMR) on urine has been done as complementary tests.

Results

The first line investigations showed acid-base imbalance (33,3%), hypoglycemia (46,6%), high lactate level (46,6%) and high ammonia level (20%). Plasma amino acid concentrations were abnormal in 4 patients (27%). Increased glycine (544 μmol/L, reference values 70,72 – 256,36 μmol/L), along with elevated glycine in cerebrospinal fluid (CSF) / plasma ratio (0,147, normal < 0.02) was detected in a patient with seizures, coma, and respiratory arrest indicating non-ketotic hyperglycinemia. High level of phenylalanine (Phe 1568µmol/L, reference values 26.52 – 221 µmol/L) has been identified in a patient suspected for Phenylketonuria after neonatal screening results (Phe > 3mg/dL). Also the ratio Phe / Tyr around 17 was specifically appreciated as for classical form of PKU. High alanine concentration (> 450 µmol/L) has been observed in two patients presenting severe metabolic acidosis and high lactate level, suggesting for a metabolic error with mitochondrial involvement. The results from extended newborn screening and NMR spectroscopy narrowed the spectrum of suspected diseases, facilitating the diagnosis. Molecular genetic tests are required for the confirmation of disease in all cases.

Conclusions

Quantitative amino acids analysis is an important tool for the diagnosis of “intoxication type” of IEMs and nutritional monitoring of individuals with already established diagnosis.

Introduction

Fatty liver disease (FLD) is composed of a wide spectrum including metabolic associated fatty liver disease (MAFLD). Cardiovascular disease (CVD) is the leading cause of mortality in this populational group. Many risk estimation systems are in existence for improving the management of population groups, but currently, none of the available risk prediction models are authenticated in patients with hepatic steatosis.

Materials and methods

Transversal, observational, prospective, case control study has been included 680 patients with MAFLD and 96 control subjects without MAFLD. Experimental group was divided in tree subgroups: A - overweight or obesity (BMI ≥ 25 kg/m2) N= 498; B – lean/normal weight (BMI <25kg/m2) N= 58 and C – Type 2 diabetes mellitus N= 156. For each patient, cardiovascular risk was estimated using the Framingham equation (risk ≥ 20% – high), SCORE risk chat (risk ≥ 10% – high) and Atherosclerotic Cardiovascular Disease Risk Algorithm from the American College of Cardiology and the American Heart Association (AHA/ACC) (risk ≥ 20% – high).

Results

Model Risk SCORE and Risk ACC/AHA had identified the low proportion of patients with high risk, however, Risk FRS determined the highest proportion of the patients as being ‘at high-risk’ (Risk SCORE -7% vs Risk ACC/AHA - 15% vs Risk FRS - 38%, p <0.001). Statistically significant correlations were found between the scoring systems Risk FRS and Risk ACC/AHA (Pearson's r = 0.939, p = 0.0001, Spearman`s rho=0.960, p <0.001).  The highest proportion of the patients as being ‘at high-risk’ from group C – DMT2 was found by model RiskFRS – 82.7%, with statistically significant difference between group A and B – 28.1 % vs 6.8%, p < 0.001. The same tendency was observed for RiskSCORE and Risk ACC/AHA (RiskSCORE DMT2 – 26.3% vs Risk ACC/AHA DMT2 – 46.8%), but these scores have identified the low proportion of patients with high risk in this populational group. 

Conclusions

The study shows that RiskFRS appeared to be most useful CVD risk assessment model in hepatic steatosis, RiskFRS is likely to identify a greater number of patients at ‘high-risk’ as compared to Risk SCORE and Risk ACC/AHA.CORE and Risk ACC/AHA.

Introduction

There were no data on in-hospital stroke care indicators until Moldova's accession to the international Registry of Stroke Care Quality (RES-Q) platform in 2016. The aim of this paper was to assess the acute stroke care quality in Moldova based on the data of the RES-Q registry.

Material and methods

We analyzed the data of all patients with acute ischemic and hemorrhagic stroke of the RES-Q from 15 Moldovan hospitals. Data were collected for one month each year, during a 3-year period (2017-2019). Data analysis was performed between hospitals according to their access to a brain CT facility for Moldovan participating hospitals. Additionally, Moldovan data were compared with other three ESO-EAST (European Stroke Organization Enhancing and Accelerating Stroke Treatment) project countries: Romania, Lithuania, and Georgia. 

Results

A total of 1660 patients were recruited in the study, mean age of 68 years (49% men). Moldova registered poorer results in number of brain CT performed (81% [95% CI 79-84%]), dysphagia screening (29% [95% CI 27-32%]), IV thrombolysis performed (3% [95% CI 2-4%]), administration of anticoagulants (44% [95% CI 39-49%]) and statins (42% [95% CI 39-45%]) at discharge, in-hospital stroke mortality (17% [95% CI 15-19%]). Within Moldova the stroke care quality was driven by the access to CT scan. 

Conclusions

Our study highlighted some serious gaps of in-hospital stroke care performance in Moldova, such as the lack of CT scans in many public hospitals, the absence of a national stroke center network, extremely low accessibility of IV thrombolysis and unsatisfactory implementation of secondary stroke prevention treatment.

Introduction. 

According to specialized literature, prostatic calculi are found in up to 80% of men over the age of 50. Prostatic calculi associated with chronic prostatitis may be closely related to lower urinary tract symptoms (LUTS) and may cause nonspecific symptoms of LUTS. The treatment drug therapy, minimally invasive as well as open surgeries, the number of which is actually decreasing worldwide. This phenomenon is mostly related to the emergence of both 
new diagnostic technologies and endourological treatment.

Material and methods. 

The study included 40 patients with bladder outlet obstruction caused by prostatic calculi due to CNBP, who were diagnosed via a series of clinical and paraclinical investigations. The treatment methods to remove the bladder outlet obstruction included surgical approaches like transurethral resection (TUR) (n = 10 patients) and laser surgery (Ho: YAG) (n = 30 patients). Subsequently, the patients were monitored and monitored at 1 and 3 months.

Results. 

All included patients in the study complained of difficulty urinating (bladder outlet obstruction and residual urine) underwent endoscopic surgical treatment. 30 patients underwent transurethral resection of the prostate with Ho:YAG laser operating at pulse energy of 2.3 J and a frequency of 18 Hz, with a peak power of 18.4 W. Laser incisions were made at 5 and 7 points of a standard quadrant by local tissue resection and removal of prostate stones. During 3 months of follow-up, the mean IPSS value improved from 23.2±2.57 points to 12.6±0.54 points; QoL also changed from 4.83±0.51 points to 2.23±0.1 points; Qmax shifted from 9.08 ± 1.8 ml/s before surgery to 14.07±1.7 ml/s after surgery; the mean value of residual urine decreased to 94.8±47.4 ml and 34.23±9.82 ml. The other 10 patients with prostate stones due to CNBP underwent another endoscopic method: incision (ITUP) or transurethral resection (TURP). The dynamics of the test findings during the follow-up period: IPSS improved from 22.9±2.42 to 10.7±0.5 points; QoL improved from 5.0±0.66 to 2.1±0.31 points; Qmax changed from 9.34±1.29 ml/s to 15.82±0.44 ml/s after the surgery. The average value of residual urine decreased from 92.9±17.95 ml to 38.9±5.97 ml. A decrease in prostate volume of 15.2 cm3 was also observed, possibly due to partial removal of sclerotic tissue and lithiasis.
 

Conclusion

Improvement in urodynamic parameters showed that endoscopic surgical treatment of prostate stones is an effective method for eliminating bladder obstruction and helps to restore urination, as well as improv￾ing the quality of life.

Introduction

Psoriatic arthritis (PsA) is a chronic musculoskeletal and cutaneous inflammatory disease that affects about 20-30% of patients with psoriasis. In addition to musculoskeletal and cutaneous manifestations, patients with PsA have a higher prevalence of comorbidities compared to the general population. More than half of patients with PsA have at least one comorbidity, with up to 40% of patients having more than three comorbidities.

Purpose of the study

To evaluate the relationship of cardiovascular comorbid pathology with the clinical and laboratory characteristics of the evolution of psoriatic arthritis and quality of life to optimize patient management tactics.

Material and methods

In order to achieve the purpose and objectives of the study, a group of 92 patients with psoriatic arthritis was selected, established in accordance with the CASPAR diagnostic criteria (2006). The patients were treated in the rheumatology and arthrology departments of the Republican Clinical Hospital „Timofei Moşneaga„ and of the Municipal Clinical Hospital „Saint Trinity” in Chisinau during 2017-2019. In order to achieve the purpose and objectives of the research, type 1 cohort study (prospective study with retrospective components) is planned.

Results

In the study conducted by us in the 92 patients with PsA, different subjective and objective symptoms of heart damage were determined. This number does not include persons up to 18 years of age and after 60 years, with obesity (BMI>25 kg/m2), diabetes mellitus type I or II, hypertension and ischemic heart disease developed up to the onset of the underlying disease, congenital dyslipidemia, congenital and rheumatic valvulopatii, decompensated cirrhosis of the liver, long-term treatment with glucocorticosteroids (>1 month) or > 1 mg/kg/body (for 2 weeks).

The most common pathology was hypertension with a frequency of 38% (35 out of 92). With an established diagnosis of coronary heart disease: exertion angina pectoris - at 5.4% (5 out of 92) and postinfarct cardiosclerosis (CSPI) in 2.2% (2 out of 92) of patients, chronic heart failure (ICC) in 6.5% (6 out of 92) of patients. Combined cardiovascular pathology was observed in 16.3% (15 out of 92) of patients. Cerebrovascular disorders were detected in 3.3% (3 out of 92).

Conclusions

In patients with PsA of young and middle age, a high frequency of comorbid pathology was observed: in 60.9% of patients, more than one comorbid pathology was observed, with the highest frequency were recorded diseases of the musculoskeletal system (42.4%), cardiovascular (41.3%) and diseases of the digestive system (41.3%).

Introduction

To date, clinical manifestations, laboratory changes and the results of instrumental examinations of the joints and spine in axial seronegative spondyloarthritis (aSpA) caused by Chlamydia trachomatis have not been fully elucidated.

Purpose of the study: evaluation of clinical manifestations features, diagnosis, and evolution of seronegative spondyloarthritis associated with Chlamydia trachomatis infection.

Objectives of the study: To compare clinical manifestations, changes in laboratory parameters, results of instrumental examinations of the joints and spine in seronegative spondyloarthritis, the axial, peripheral, and mixed form. To appreciate the significance of Chlamydia trachomatis in the development of SpA by detecting the presence of DNA using the polymerase chain reaction (PCR) in real time and by isothermal amplification of NASBA-PCR (Nucleic acid sequence-based amplification).

Material and methods

During 2015-2021 were examined 138 patients with SpA hospitalized in the Republican Clinical Hospital „Timofei Moşneaga”. Chlamydia trachomatis in the form of monoinfection was detected in 87 (6.3%) patients, of which 52 (59.8%) were women and 35 (40.2%) men.

Results

The results of the diagnosis of Chlamydia trachomatis infection in patients with arthritis: Chlamydia trachomatis infection was detected in 78 (89.7%) out of 87 patients examined by PCR, and in 9 (10.3%) cases by ELISA. The peripheral form begins mainly with inflammation of the joints of the lower extremities (81.8%), of which the knee joints are mainly involved in the pathological process (63.6%). SpA axial form associated with Chlamydia trachomatis infection occurs mainly in young men (85.7%). In more than half of the patients, large joints participate in the pathological process (58.8%), especially the lower extremities. The axial variant of the SpA can begin with an injury in any part of the spine.

Conclusions 

SpA associated with Chlamydia trachomatis infection has more expressed clinical, laboratory and instrumental manifestations both in the onset and in the advanced stage of the disease.

Introduction

The current treatment for primary NMIBC is the transurethral resection of bladder tumor (TURBT) which is combined with postoperative intravesical instillation. It has been proven that the rate of disease recurrence depends on the quality of the primary surgical operation. Due to the development of laser surgery, the appearance of holmium (Ho:YAG) and later, in the 1990s, the appearance of thulium (Tm:YAG) lasers, the en-bloc laser resection was possible. The aim of this research was to compare results after Thulium laser En-bloc transurethral resection and transurethral resection of non-muscular invasive urinary bladder tumors.

Material and methods

Between February 2017 and May 2019, within the Urology Clinic of Nicolae Testemițanu State University of Medicine and Pharmacy 65 patients with bladder tumor pathology were surgically treated. Patients were divided in two groups: Thulium laser En-bloc transurethral resection group which includes 32 patients and transurethral resection group with 33 patients. The obtained data were comparatively analyzed.

Results

Tumor analysis showed that in most of the cases tumors were localized on the lateral walls of the bladder, a tumor up to 3 cm in size was detected in 71% of cases (46 patients) and single bladder tumors were detected in 65% of cases (42 patients) included in the study. Detrusor muscle was detected in 73% of cases in the TURBT group and in 97% of cases in the TmLRBT group. The majority of recurrences during the 12-month follow-up occurred in the TURBT group 39% (13 cases) in initial resection area 54% (7 cases). For TmLRBT group recurrence rate was 15% (5 cases), recurrence occurred predominantly in the non-primary resection area 80% (4 cases).

Conclusions

The Thulium laser En-bloc transurethral resection of non-muscle-invasive bladder tumor (TmLRBT) proved to be an effective and safe method of treatment compared to the conventional transurethral resection (TURBT). This technique allows the obtaining of tumor samples in a higher quality (detrusor muscle is present in more cases), contributing to a correct diagnosis and staging of the disease. Finally, it leads to more favorable results and a reduction of recurrence rate.

Introduction

PsA are included in the group of HLA-B27-associated joint diseases, united in the group of seronegative spondylitis (SSA). At the same time, this disease differs from ankylosing spondylitis and other spondylitis with a particularly diverse clinical picture and the existence of only the syndromes inherent in it, for example, intermittent synovitis, palindromic rheumatism or mutilating arthritis. 

Purpose of the study

Research of clinical heterogeneity of early psoriatic arthritis and the possibility of early diagnosis.

The current study included 104 patients with PsA who were admitted to the rheumatology and arthrology departments of the IMSP Republican Clinical Hospital „Timofei Moşneaga” from 2003 to October 2021. 

Conclusions

The early stage of psoriatic arthritis is characterized by pronounced heterogeneity of manifestations of joint syndrome and damage to the tendon-ligament apparatus. In PsA-e oligoarthritis and polyarticular variants are the most common, less often - distal interphalangeal and spondyloarthritic. In the first 3 months after the onset of clinical manifestations of PsA, oligoarthritis was observed in 75.4% of patients and polyarthritis in 14% (p=0.0001), and after 6 months - 63% and 26.6% respectively (p=0.001). With a progression of the duration of the disease, the number of patients with arthritis increased, and by the end of the 2nd year was determined in 47.6% of patients, and oligoarthritis - in 28.6%.

Introduction

Early diagnosis of thyroid cancer is difficult because the neoplasm coexists or develops against the background of thyroid nodulo-inflammatory pathologies, which have a slow evolution. The association of thyroid carcinoma with autoimmune thyroiditis remains debatable. In the literature, this combination is noted on average from 1% to 75% of cases. In recent years, there has been an increasing trend in the number of cancers of the thyroid gland against the background of autoimmune thyroiditis. The epidemiological features and morbidity of thyroid cancer associated with lymphocytic (autoimmune) thyroiditis in the Republic of Moldova are not fully elucidated.

Material and methods

This work was performed within the IMSP Oncological Institute of the Republic of Moldova. This study was prospective-selective. The research was conducted during the years 2017-2020 with the approval of the Research Ethics Committee of the „Nicolae Testemițanu” State University of Medicine and Pharmacy of the Republic of Moldova, (minutes №76 from 14.11.2016). The study involved 234 patients admitted to the scientific laboratory tumors of the head and neck region. Patients included in the study met the inclusion criteria (patient consent with informed consent, age, patients with thyroid cancer developed on a healthy background and on the background of autoimmune thyroiditis).

Results

The distribution of patients according to age indicates an identical percentage distribution for the cases included in the CT (thyroid carcinoma) + TA (autoimmune thyroiditis) group in both groups, where patients up to 55 years of age predominate, which constitute group 1 (52,7%) and group 2 (50,9%). In the CT + FS (healthy background) group, patients up to 55 years of age constitute the majority (68,9%), similar to the CT + TA group. In the CT + TA group, women with a female / male ratio of 27/1 predominated, and in the CT + FS group, the genre ratio (F / M) was 4/1. From the rural area, 44,7% of patients came, respectively from the urban area 55,2% of cases, similar figures for both groups. Evaluating the development region, a predominance of patients living in the central and southern region of the Republic of Moldova was found.

Conclusions

Thyroid carcinoma associated with autoimmune thyroiditis is on the rise in the Republic of Moldova. This nosology mainly affects young people up to the age of 55 and predominates in females. According to the distribution of patients according to the environment southern Republic of Moldova. According to the distribution of patients by blood group we notice a predominance of blood group „O”.

Introduction 

Chronic myeloid leukemia (CML) comprises 15-20% of all leukemia cases in adults, being the most common chronic myeloproliferative neoplasm, with the patients’ immunocompromised status in the advanced phases. The international periodical literature stipulates the increased susceptibility of patients with malignant tumors to SARS-CoV-2 infection, but the contagion risk is not determined in regard to the histological type of hematologic malignancies. The aim of the study was the comparative evaluation of the current epidemiological patterns and the contemporary diagnostics output in CML, axed on the optimization of tactics of diagnosis management in the context of the pandemic with COVID-19 infection.

Material and methods

An analytical, qualitative, secondary study was performed – the narrative review of literature in the form of a synthesis article. Fifty three relevant primary sources were identified and selected, according to the significance of the impact score, with the subsequent and scientific data extraction and analysis. 

Results

CML varies between 0.8 - 2.0 cases per 100000 population. The total number of patients diagnosed with CML increased annually by 2% during 2007-2016. In 2017, a comparatively high level of the age-standardized death rate (ASDR) (0.6 per 100,000 population, 95% IU) and the DALYs (disability-adjusted life-years) age-standardized rate (ASR) (16.71 per 100,000 population, 95% IU) were registered in quintiles with low SDI. By the quantitative RT-PCR analysis of blood cells for BCR-ABL p210 gene transcript, the published studies highlight its large variations: 21.84 - 100% IS. FISH and PCR are able to detect rare BCR-ABL gene variants and breakpoints that may go unnoticed by conventional cytogenetics.

Conclusions

Despite the declining overall trend of ASIR, ASDR and age-standardized DALYs at the expense of high SDI quintiles, the CML burden remains stable due to the growing population in developing countries and the aging population in developed countries. Management of patients with primary diagnosed CML, with high risk factors, should include enhanced surveillance for SARS-CoV-2 infection. Diagnostics management of patients with CML includes morphological, cytogenetic and molecular-genetic investigations of the peripheral blood and bone marrow regardless of the phase of clinical evolution, with FISH and RT-PCR as proving resolutive modalities.

Introduction

Hypertrophic cardiomyopathy is an autosomal dominant genetic disease. The signs and symptoms of disease vary in terms of history and clinical course, ranging from the development of acute heart failure or even sudden death, while other patients may remain asymptomatic throughout life. At the same time, there is a lack of correlation between the genotype and the phenotype of the disease. Thus, within a family, of two members carrying the same genetic abnormality, one may present a clinical manifestation of severe heart failure, the other remaining asymptomatic. 

Clinical case presentation

In this paper, we report a case of a 34-year-old male who comes to see a cardiologist with complaints of moderate-intensity dyspnea, general weakness, and fatigue installed during the post-COVID-19 recovery period.

Management and results

The evolutionary positive dynamics of the disease on the prescribed treatment is followed, as well as the diagnostic criteria for hypertrophic cardiomyopathy.

Discussion

The discussed clinical case of acute cardiac failure in adult otherwise healthy mail is of interest because it rises clinical combinations that were not debated previously: primary diagnosed hypertrophic cardiomyopathy combined with COVID-19, post-COVID-19 isolated myocarditis, hypertrophic cardiomyopathy associated with myocarditis and infection COVID-19. If the suspicion of hypertrophic cardiomyopathy is confirmed, the eventual perianesthetic management of such a patient will change radically. The article presents details of the pathophysiology of hypertrophic cardiomyopathy and key elements for maintaining hemodynamic goals

Materials and methods

Description of two clinical cases with gout and renal involvement, one male and one female, which were hospitalized in the „Timofei Mosneaga” Republican Clinical Hospital and Municipal Clinical Hospital „Saint Trinity” in 2021.

Results

The male patient was hospitalized in a serious condition, being drowsy, disoriented and with bradyphrenia. Patient complained of dyspnea at mild exertion, severe fatigue, 5-day anuria and generalized edema. From the history collected from relatives, it was discovered that the patient has been diagnosed with gout a few years ago. The female patient has been hospitalized in the Nephrology department of the Republican Clinical Hospital „Timofei Moşneaga” for comprehensive evaluation. Her complaints: low back pain, dysuria, nocturia, moderate ankle edema, oliguria, marked asthenia, paresthesia. 

Conclusions

In women, primary renal damage is more common until the onset of menopause. After the onset of menopause, there is primarily joint damage, then kidney damage, or this process develops simultaneously (kidney and joint damage). In males due to hyperuricemia, there is joint damage, which later is associated with gouty nephropathy or kidney and joint involvement evolve paralleled.