poVezanost položaja tijela tijekom spaVanja s nalazima cjelonoćne polisomnografije u pacije- nata s opstrukcijskom apnejom

Aim: The aim of our study was to determine the association between body position during sleep and OSA severity in patients with newly diagnosed OSA after full-length polysomnography. Subjects and Methods: We conducted a cross-sectional and clinical study involving 414 subjects (281 men and 133 women) older than 18 whose median age was 55 years. In 2017, subjects came to the Center for Sleep Medicine at UHC Split and the Split School of Medicine and their dana was taken from the archives of the same center. All patients did a full-night polysomnography after which the severity of OSA was estimated with the help of AHI in accordance with the OSA diagnosis guidelines prescribed by the American Academy of Sleep Medicine (AASM) and European Sleep Research Society (ESRS). Excessive daily sleepiness has been estimated by the Epworth Sleepiness Scale (ESS). Results: Statistical analysis showed that patients had spent more time on the back (189.9±118.4min) than on the left (113.3±90.9min) or right side (80.6±90.6min) during sleep and had the most sleep apneas on their back (AHI = 31.1±31.9). Patients with diagnosed OSA (AHI≥5) also had higher AHI values on the back (39.1±31.9) than on the left (23.8±25.2) or right side (18.5±25.6) during sleep. Patients with diagnosed OSA in comparison to patients without OSA diagnosis had statistically significantly higher BMI (29.5±4.6kg/m2 vs. 25.3±4.1kg/m2, P<0.001) and neck circumference (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Overall, considering the whole sample, men were taller (180.8±7.4cm than 165.9±6.7cm, P<0.001), had higher BMI (29.4±4.5kg/m2 compared to 26.8±4.9kg/m2, P<0.001 ) and bigger neck circumference (43.2±3.5cm vs. 36.2±3.4cm, P=0.002), as well as a larger ESS sum (7.6±4.7 compared to 6.3±4.8, P=0.021). Using the Pearson Correlation Coefficient, we showed a negative correlation of AHI with sleep time on the right side (r=-0.178, P=0.005) in OSA patients, while positive correlation was found in sleep on the left side (r=0.003, P=0.959) and back (r=0.183, P=0.002). Conclusion: Our research showed that patients sleep the most time n their back and that AHI ist the highest in that sleep position in comparison to other sleep position which worsens sleep quality in the long term.Cilj: Cilj našeg istraživanja je utvrditi povezanost položaja tijela tijekom spavanja sa stupnjem OSA-e u pacijenata s novodijagnosticiranom OSA-om nakon cjelonoćne polisomnografije. Ispitanici i metode: Proveli smo presječno i kliničko istraživanje koje je uključivalo 414 ispitanika (281 muškarac i 133 žene) starijih od 18 godina čiji je medijan starosti bio 55 godina. Ispitanici su 2017. godine došli na dijagnos- tičku obradu u Centar za medicinu spavanja KBC-a Split i Medicinskog fakulteta u Splitu te su njihovi podatci uzeti iz arhive istog centra. Svim pacijentima napravljena je cjelonoćna polisomnografija nakon koje je s pomoću AHI-ja procijenjena težina OSA-e u skladu sa smjernicama za dijagnostiku OSA-e koje su propisane od strane Američke akademije za medicinu spavanja (engl. American Academy of Sleep Medicine, AASM) i Europskog društva za istraživanje spavanja (engl. European Sleep Research Society, ESRS). Prekomjerna dnevna pospanost procijenjena je Epworthovom ljestvicom pospanosti (engl. Epworth Sleepiness Scale, ESS). Rezultati: Statistička analiza pokazala je da su pacijenti prosječno više vremena proveli spavajući na leđima (189.9±118.4min) nego na lijevom (113.3±90.9min) ili desnom boku (80.6±90.6min) te da su imali najviše apneja tijekom spavanja na leđima (AHI=31.1±31.9). Pacijenti s dijagnosticiranom OSA-om (AHI≥5) također su imali veću AHI vrijednost na leđima (39.1±31.9) nego na lijevom (23.8±25.2) ili desnom boku (18.5±25.6). Pacijenti s dijagnosticiranom OSA-om u odnosu na pacijente bez dijagnoze OSA-e imali su statistički značajno veći ITM (29.5±4.6kg/m2 vs 25.3±4.1kg/m2, P<0.001) i opseg vrata (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Ukupno gledajući cijeli uzorak, muškarci su bili viši (180.8±7.4cm u odnosu na 165.9±6.7cm, P<0.001), imali veći ITM (29.4±4.5kg/m2 u odnosu na 26.8±4.9kg/m2, P<0.001) i opseg vrata (43.2±3.5cm u odnosu na 36.2±3.4cm, P=0.002), kao i veći ESS zbroj (7.6±4.7 u odnosu na 6.3±4.8, P=0.021). Koristeći Pearsonov koeficijent korelacije, uočili smo nega- tivnu korelaciju AHI-ja s vremenom spavanja na desnom boku (r=-0.178, P=0.005) u pacijenata s OSA-om, dok je pozitivna korelacija pronađena kod spavanja ne lijevom boku (r=0.003, P=0.959) i leđima (r=0.183, P=0.002). Zaključak: Naše istraživanje pokazalo je da pacijenti najviše vremena provode spavajući na leđima te da je AHI vrijednost upravo u tom položaju veća u odnosu na druge položaje tijela što dugoročno narušava kvalitetu spav- anja

CONNECTION BETWEEN BODY POSITION DURING SLEEP AND FINDINGS FROM FULL-NIGHT POLYSOMNOGRAPHY IN PATIENTS WITH OBSTRUCTIVE SLEEP APNEA

Cilj: Cilj našeg istraživanja je utvrditi povezanost položaja tijela tijekom spavanja sa stupnjem OSA-e u pacijenata s novodijagnosticiranom OSA-om nakon cjelonoćne polisomnografije. Ispitanici i metode: Proveli smo presječno i kliničko istraživanje koje je uključivalo 414 ispitanika (281 muškarac i 133 žene) starijih od 18 godina čiji je medijan starosti bio 55 godina. Ispitanici su 2017. godine došli na dijagnostičku obradu u Centar za medicinu spavanja KBC-a Split i Medicinskog fakulteta u Splitu te su njihovi podatci uzeti iz arhive istog centra. Svim pacijentima napravljena je cjelonoćna polisomnografija nakon koje je s pomoću AHI-ja procijenjena težina OSA-e u skladu sa smjernicama za dijagnostiku OSA-e koje su propisane od strane Američke akademije za medicinu spavanja (engl. American Academy of Sleep Medicine, AASM) i Europskog društva za istraživanje spavanja (engl. European Sleep Research Society, ESRS). Prekomjerna dnevna pospanost procijenjena je Epworthovom ljestvicom pospanosti (engl. Epworth Sleepiness Scale, ESS). Rezultati: Statistička analiza pokazala je da su pacijenti prosječno više vremena proveli spavajući na leđima (189.9±118.4min) nego na lijevom (113.3±90.9min) ili desnom boku (80.6±90.6min) te da su imali najviše apneja tijekom spavanja na leđima (AHI=31.1±31.9). Pacijenti s dijagnosticiranom OSA-om (AHI≥5) također su imali veću AHI vrijednost na leđima (39.1±31.9) nego na lijevom (23.8±25.2) ili desnom boku (18.5±25.6). Pacijenti s dijagnosticiranom OSA-om u odnosu na pacijente bez dijagnoze OSA-e imali su statistički značajno veći ITM (29.5±4.6kg/m2 vs 25.3±4.1kg/m2, P<0.001) i opseg vrata (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Ukupno gledajući cijeli uzorak, muškarci su bili viši (180.8±7.4cm u odnosu na 165.9±6.7cm, P<0.001), imali veći ITM (29.4±4.5kg/m2 u odnosu na 26.8±4.9kg/m2, P<0.001) i opseg vrata (43.2±3.5cm u odnosu na 36.2±3.4cm, P=0.002), kao i veći ESS zbroj (7.6±4.7 u odnosu na 6.3±4.8, P=0.021). Koristeći Pearsonov koeficijent korelacije, uočili smo negativnu korelaciju AHI-ja s vremenom spavanja na desnom boku (r=-0.178, P=0.005) u pacijenata s OSA-om, dok je pozitivna korelacija pronađena kod spavanja ne lijevom boku (r=0.003, P=0.959) i leđima (r=0.183, P=0.002). Zaključak: Naše istraživanje pokazalo je da pacijenti najviše vremena provode spavajući na leđima te da je AHI vrijednost upravo u tom položaju veća u odnosu na druge položaje tijela što dugoročno narušava kvalitetu spavanja.Aim: The aim of our study was to determine the association between body position during sleep and OSA severity in patients with newly diagnosed OSA after full-length polysomnography. Subjects and Methods: We conducted a cross-sectional and clinical study involving 414 subjects (281 men and 133 women) older than 18 whose median age was 55 years. In 2017, subjects came to the Center for Sleep Medicine at KBC Split and the Split School of Medicine and their data was taken from the archives of the same center. All patients did a full-night polysomnography after which the severity of OSA was estimated with the help of AHI in accordance with the OSA diagnosis guidelines prescribed by the American Academy of Sleep Medicine (AASM) and European Sleep Research Society (ESRS). Excessive daily sleepiness has been estimated by the Epworth Sleepiness Scale (ESS). Results: Statistical analysis showed that patients had spent more time on the back (189.9±118.4min) than on the left (113.3±90.9min) or right side (80.6±90.6min) during sleep and had the most sleep apneas on their back (AHI = 31.1±31.9). Patients with diagnosed OSA (AHI≥5) also had higher AHI values on the back (39.1±31.9) than on the left (23.8±25.2) or right side (18.5±25.6) during sleep. Patients with diagnosed OSA in comparison to patients without OSA diagnosis had statistically significantly higher BMI (29.5±4.6kg/m2 vs. 25.3±4.1kg/m2, P<0.001) and neck circumference (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Overall, considering the whole sample, men were taller (180.8±7.4cm than 165.9±6.7cm, P<0.001), had higher BMI (29.4±4.5kg/m2 compared to 26.8±4.9kg/m2, P<0.001 ) and bigger neck circumference (43.2±3.5cm vs. 36.2±3.4cm, P=0.002), as well as a larger ESS sum (7.6±4.7 compared to 6.3±4.8, P=0.021). Using the Pearson Correlation Coefficient, we showed a negative correlation of AHI with sleep time on the right side (r=-0.178, P=0.005) in OSA patients, while positive correlation was found in sleep on the left side (r=0.003, P=0.959) and back (r=0.183, P=0.002)

CONNECTION BETWEEN BODY POSITION DURING SLEEP AND FINDINGS FROM FULL-NIGHT POLYSOMNOGRAPHY IN PATIENTS WITH OBSTRUCTIVE SLEEP APNEA

Cilj: Cilj našeg istraživanja je utvrditi povezanost položaja tijela tijekom spavanja sa stupnjem OSA-e u pacijenata s novodijagnosticiranom OSA-om nakon cjelonoćne polisomnografije. Ispitanici i metode: Proveli smo presječno i kliničko istraživanje koje je uključivalo 414 ispitanika (281 muškarac i 133 žene) starijih od 18 godina čiji je medijan starosti bio 55 godina. Ispitanici su 2017. godine došli na dijagnostičku obradu u Centar za medicinu spavanja KBC-a Split i Medicinskog fakulteta u Splitu te su njihovi podatci uzeti iz arhive istog centra. Svim pacijentima napravljena je cjelonoćna polisomnografija nakon koje je s pomoću AHI-ja procijenjena težina OSA-e u skladu sa smjernicama za dijagnostiku OSA-e koje su propisane od strane Američke akademije za medicinu spavanja (engl. American Academy of Sleep Medicine, AASM) i Europskog društva za istraživanje spavanja (engl. European Sleep Research Society, ESRS). Prekomjerna dnevna pospanost procijenjena je Epworthovom ljestvicom pospanosti (engl. Epworth Sleepiness Scale, ESS). Rezultati: Statistička analiza pokazala je da su pacijenti prosječno više vremena proveli spavajući na leđima (189.9±118.4min) nego na lijevom (113.3±90.9min) ili desnom boku (80.6±90.6min) te da su imali najviše apneja tijekom spavanja na leđima (AHI=31.1±31.9). Pacijenti s dijagnosticiranom OSA-om (AHI≥5) također su imali veću AHI vrijednost na leđima (39.1±31.9) nego na lijevom (23.8±25.2) ili desnom boku (18.5±25.6). Pacijenti s dijagnosticiranom OSA-om u odnosu na pacijente bez dijagnoze OSA-e imali su statistički značajno veći ITM (29.5±4.6kg/m2 vs 25.3±4.1kg/m2, P<0.001) i opseg vrata (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Ukupno gledajući cijeli uzorak, muškarci su bili viši (180.8±7.4cm u odnosu na 165.9±6.7cm, P<0.001), imali veći ITM (29.4±4.5kg/m2 u odnosu na 26.8±4.9kg/m2, P<0.001) i opseg vrata (43.2±3.5cm u odnosu na 36.2±3.4cm, P=0.002), kao i veći ESS zbroj (7.6±4.7 u odnosu na 6.3±4.8, P=0.021). Koristeći Pearsonov koeficijent korelacije, uočili smo negativnu korelaciju AHI-ja s vremenom spavanja na desnom boku (r=-0.178, P=0.005) u pacijenata s OSA-om, dok je pozitivna korelacija pronađena kod spavanja ne lijevom boku (r=0.003, P=0.959) i leđima (r=0.183, P=0.002). Zaključak: Naše istraživanje pokazalo je da pacijenti najviše vremena provode spavajući na leđima te da je AHI vrijednost upravo u tom položaju veća u odnosu na druge položaje tijela što dugoročno narušava kvalitetu spavanja.Aim: The aim of our study was to determine the association between body position during sleep and OSA severity in patients with newly diagnosed OSA after full-length polysomnography. Subjects and Methods: We conducted a cross-sectional and clinical study involving 414 subjects (281 men and 133 women) older than 18 whose median age was 55 years. In 2017, subjects came to the Center for Sleep Medicine at KBC Split and the Split School of Medicine and their data was taken from the archives of the same center. All patients did a full-night polysomnography after which the severity of OSA was estimated with the help of AHI in accordance with the OSA diagnosis guidelines prescribed by the American Academy of Sleep Medicine (AASM) and European Sleep Research Society (ESRS). Excessive daily sleepiness has been estimated by the Epworth Sleepiness Scale (ESS). Results: Statistical analysis showed that patients had spent more time on the back (189.9±118.4min) than on the left (113.3±90.9min) or right side (80.6±90.6min) during sleep and had the most sleep apneas on their back (AHI = 31.1±31.9). Patients with diagnosed OSA (AHI≥5) also had higher AHI values on the back (39.1±31.9) than on the left (23.8±25.2) or right side (18.5±25.6) during sleep. Patients with diagnosed OSA in comparison to patients without OSA diagnosis had statistically significantly higher BMI (29.5±4.6kg/m2 vs. 25.3±4.1kg/m2, P<0.001) and neck circumference (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Overall, considering the whole sample, men were taller (180.8±7.4cm than 165.9±6.7cm, P<0.001), had higher BMI (29.4±4.5kg/m2 compared to 26.8±4.9kg/m2, P<0.001 ) and bigger neck circumference (43.2±3.5cm vs. 36.2±3.4cm, P=0.002), as well as a larger ESS sum (7.6±4.7 compared to 6.3±4.8, P=0.021). Using the Pearson Correlation Coefficient, we showed a negative correlation of AHI with sleep time on the right side (r=-0.178, P=0.005) in OSA patients, while positive correlation was found in sleep on the left side (r=0.003, P=0.959) and back (r=0.183, P=0.002)

Dasatinib-induced nephrotic syndrome: a case of phenoconversion?

We present the case of a 33-year-old chronic myeloid leukemia (CML) female patient, in whom the occurrence of nephrotic syndrome, during the treatment with tyrosine kinase activity inhibitors (TKIs), was potentially influenced by transient phenoconversion. Seven years after the CML diagnosis in 2004 and complete response, the patient experienced pain in the mandible and extremities. After this, imatinib was replaced by nilotinib, but generalized maculopapular rash was presented and successfully treated with antihistamines. The therapy was then discontinued due to planned pregnancy, and the patient experienced a relapse of CML with BCR-ABL/ABL1 transcripts of 18.9%. Dasatinib was introduced, and CML was in remission. Two years later, urine protein levels (6.19 g/L) and erythrocyte sedimentation rate were elevated (ESR = 90 mm/3.6 ks). The patient was diagnosed with nephrotic syndrome. With dasatinib dose reduction, urine protein level returned to the reference range. In order to determine the best genotype-guided therapy, the patient underwent pharmacogenomic testing, showing a homozygous CYP3A4 genotype *1/*1, associated with extensive metabolizer (EM) enzyme phenotype, typical for normal rates of drug metabolism for TKIs. However, this was inconsistent with nephrotic syndrome occurrence. A possible explanation would be CYP3A4 EM genotype coding a poor metabolizer enzyme phenotype, leading to the drug accumulation in the patient’s blood. This transient phenoconversion can be explained by inflammation with elevated ESR during nephrotic syndrome. This case shows that a broader approach that recognizes genetic, clinical, and epigenomic factors is required for a quality decision on the personalized therapy regimen

Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient's recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities

CONNECTION BETWEEN BODY POSITION DURING SLEEP AND FINDINGS FROM FULL-NIGHT POLYSOMNOGRAPHY IN PATIENTS WITH OBSTRUCTIVE SLEEP APNEA

Cilj: Cilj našeg istraživanja je utvrditi povezanost položaja tijela tijekom spavanja sa stupnjem OSA-e u pacijenata s novodijagnosticiranom OSA-om nakon cjelonoćne polisomnografije. Ispitanici i metode: Proveli smo presječno i kliničko istraživanje koje je uključivalo 414 ispitanika (281 muškarac i 133 žene) starijih od 18 godina čiji je medijan starosti bio 55 godina. Ispitanici su 2017. godine došli na dijagnostičku obradu u Centar za medicinu spavanja KBC-a Split i Medicinskog fakulteta u Splitu te su njihovi podatci uzeti iz arhive istog centra. Svim pacijentima napravljena je cjelonoćna polisomnografija nakon koje je s pomoću AHI-ja procijenjena težina OSA-e u skladu sa smjernicama za dijagnostiku OSA-e koje su propisane od strane Američke akademije za medicinu spavanja (engl. American Academy of Sleep Medicine, AASM) i Europskog društva za istraživanje spavanja (engl. European Sleep Research Society, ESRS). Prekomjerna dnevna pospanost procijenjena je Epworthovom ljestvicom pospanosti (engl. Epworth Sleepiness Scale, ESS). Rezultati: Statistička analiza pokazala je da su pacijenti prosječno više vremena proveli spavajući na leđima (189.9±118.4min) nego na lijevom (113.3±90.9min) ili desnom boku (80.6±90.6min) te da su imali najviše apneja tijekom spavanja na leđima (AHI=31.1±31.9). Pacijenti s dijagnosticiranom OSA-om (AHI≥5) također su imali veću AHI vrijednost na leđima (39.1±31.9) nego na lijevom (23.8±25.2) ili desnom boku (18.5±25.6). Pacijenti s dijagnosticiranom OSA-om u odnosu na pacijente bez dijagnoze OSA-e imali su statistički značajno veći ITM (29.5±4.6kg/m2 vs 25.3±4.1kg/m2, P<0.001) i opseg vrata (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Ukupno gledajući cijeli uzorak, muškarci su bili viši (180.8±7.4cm u odnosu na 165.9±6.7cm, P<0.001), imali veći ITM (29.4±4.5kg/m2 u odnosu na 26.8±4.9kg/m2, P<0.001) i opseg vrata (43.2±3.5cm u odnosu na 36.2±3.4cm, P=0.002), kao i veći ESS zbroj (7.6±4.7 u odnosu na 6.3±4.8, P=0.021). Koristeći Pearsonov koeficijent korelacije, uočili smo negativnu korelaciju AHI-ja s vremenom spavanja na desnom boku (r=-0.178, P=0.005) u pacijenata s OSA-om, dok je pozitivna korelacija pronađena kod spavanja ne lijevom boku (r=0.003, P=0.959) i leđima (r=0.183, P=0.002). Zaključak: Naše istraživanje pokazalo je da pacijenti najviše vremena provode spavajući na leđima te da je AHI vrijednost upravo u tom položaju veća u odnosu na druge položaje tijela što dugoročno narušava kvalitetu spavanja.Aim: The aim of our study was to determine the association between body position during sleep and OSA severity in patients with newly diagnosed OSA after full-length polysomnography. Subjects and Methods: We conducted a cross-sectional and clinical study involving 414 subjects (281 men and 133 women) older than 18 whose median age was 55 years. In 2017, subjects came to the Center for Sleep Medicine at KBC Split and the Split School of Medicine and their data was taken from the archives of the same center. All patients did a full-night polysomnography after which the severity of OSA was estimated with the help of AHI in accordance with the OSA diagnosis guidelines prescribed by the American Academy of Sleep Medicine (AASM) and European Sleep Research Society (ESRS). Excessive daily sleepiness has been estimated by the Epworth Sleepiness Scale (ESS). Results: Statistical analysis showed that patients had spent more time on the back (189.9±118.4min) than on the left (113.3±90.9min) or right side (80.6±90.6min) during sleep and had the most sleep apneas on their back (AHI = 31.1±31.9). Patients with diagnosed OSA (AHI≥5) also had higher AHI values on the back (39.1±31.9) than on the left (23.8±25.2) or right side (18.5±25.6) during sleep. Patients with diagnosed OSA in comparison to patients without OSA diagnosis had statistically significantly higher BMI (29.5±4.6kg/m2 vs. 25.3±4.1kg/m2, P<0.001) and neck circumference (42.0±4.4cm vs 37.4±3.9cm, P<0.001). Overall, considering the whole sample, men were taller (180.8±7.4cm than 165.9±6.7cm, P<0.001), had higher BMI (29.4±4.5kg/m2 compared to 26.8±4.9kg/m2, P<0.001 ) and bigger neck circumference (43.2±3.5cm vs. 36.2±3.4cm, P=0.002), as well as a larger ESS sum (7.6±4.7 compared to 6.3±4.8, P=0.021). Using the Pearson Correlation Coefficient, we showed a negative correlation of AHI with sleep time on the right side (r=-0.178, P=0.005) in OSA patients, while positive correlation was found in sleep on the left side (r=0.003, P=0.959) and back (r=0.183, P=0.002)

Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient’s recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities

Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient’s recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities

Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data

Pharmacogenomics (PGx) is one of the core elements of personalized medicine. PGx information reduces the likelihood of adverse drug reactions and optimizes therapeutic efficacy. St Catherine Specialty Hospital in Zagreb/Zabok, Croatia has implemented a personalized patient approach using the RightMed Comprehensive PGx panel of 25 pharmacogenes plus Facor V Leiden, Factor II and MTHFR genes, which is interpreted by a special counseling team to offer the best quality of care. With the advent of significant technological advances comes another challenge: how can we harness the data to inform clinically actionable measures and how can we use it to develop better predictive risk models? We propose to apply the principles artificial intelligence to develop a medication optimization platform to prevent, manage and treat different diseases